Trait
Pointed chin
A marked tapering of the lower face to the chin.
Summary
- Also called
- Pointy chin, Small pointed chin, Witch's chin, Pointed mention region
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test150 genes linked to Pointed chin
Changes in these genes cause rare conditions in which Pointed chin is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Always | In 1 condition |
| CDH11cadherin 11 | Always | In 2 conditions |
| CHD8chromodomain helicase DNA binding protein 8 | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| POLR3ARNA polymerase III subunit A | Always | In 2 conditions |
| PORCNporcupine O-acyltransferase | Always | In 2 conditions |
| SLC37A4solute carrier family 37 member 4 | Always | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Always | In 2 conditions |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 2 conditions |
| TBC1D7TBC1 domain family member 7 | Always | In 2 conditions |
| TLK2tousled like kinase 2 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TMEM94transmembrane protein 94 | Always | In 1 condition |
| ACTBactin beta | Very often (80–99%) | In 3 conditions |
| ACTG1actin gamma 1 | Very often (80–99%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Very often (80–99%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Very often (80–99%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Very often (80–99%) | In 2 conditions |
Show 110 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 2 conditions |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 2 conditions |
| BCRBCR activator of RhoGEF and GTPase | Often (30–79%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Often (30–79%) | In 2 conditions |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Often (30–79%) | In 2 conditions |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Often (30–79%) | In 1 condition |
| CHD1chromodomain helicase DNA binding protein 1 | Often (30–79%) | In 2 conditions |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| CRKLCRK like proto-oncogene, adaptor protein | Often (30–79%) | In 1 condition |
| CUL7cullin 7 | Often (30–79%) | In 2 conditions |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| DOCK3dedicator of cytokinesis 3 | Often (30–79%) | In 1 condition |
| FGF3fibroblast growth factor 3 | Often (30–79%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Often (30–79%) | In 1 condition |
| GON4Lgon-4 like | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KDM3Blysine demethylase 3B | Often (30–79%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Often (30–79%) | In 2 conditions |
| MAPK1mitogen-activated protein kinase 1 | Often (30–79%) | In 2 conditions |
| MEIS2Meis homeobox 2 | Often (30–79%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Often (30–79%) | In 1 condition |
| MYH3myosin heavy chain 3 | Often (30–79%) | In 1 condition |
| PDCD6IPprogrammed cell death 6 interacting protein | Often (30–79%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| PGM2L1phosphoglucomutase 2 like 1 | Often (30–79%) | In 1 condition |
| PLK4polo like kinase 4 | Often (30–79%) | In 1 condition |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| POU4F1POU class 4 homeobox 1 | Often (30–79%) | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Often (30–79%) | In 1 condition |
| PUM1pumilio RNA binding family member 1 | Often (30–79%) | In 1 condition |
| PUS7pseudouridine synthase 7 | Often (30–79%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Often (30–79%) | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 2 conditions |
| TUBGCP4tubulin gamma complex component 4 | Often (30–79%) | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Often (30–79%) | In 1 condition |
| YY1YY1 transcription factor | Often (30–79%) | In 2 conditions |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 3 conditions |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| ZNF148zinc finger protein 148 | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| CBFBcore-binding factor subunit beta | Sometimes (5–29%) | In 1 condition |
| CDH2cadherin 2 | Sometimes (5–29%) | In 1 condition |
| CDK10cyclin dependent kinase 10 | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FN1fibronectin 1 | Sometimes (5–29%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| KIFBPkinesin family binding protein | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MADDMAP kinase activating death domain | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MESDmesoderm development LRP chaperone | Sometimes (5–29%) | In 1 condition |
| NAV3neuron navigator 3 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sometimes (5–29%) | In 1 condition |
| SETSET nuclear proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sometimes (5–29%) | In 1 condition |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| THOC6THO complex subunit 6 | Sometimes (5–29%) | In 1 condition |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Sometimes (5–29%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| ZNF526zinc finger protein 526 | Sometimes (5–29%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Not recorded | In 1 condition |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Not recorded | In 1 condition |
| NOTCH2notch receptor 2 | Not recorded | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| RALARAS like proto-oncogene A | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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