WNT10A

Highest pathogenic variant AF is 0.0014087509

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000258411

Coding exons

4

Length

19219

Individuals with no LoFs

125560

Homozygous LoFs

0

Heterozygous LoFs

187

Defined

125747

p

0.000744

Function

FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954). {ECO:0000250|UniProtKB:P70701, ECO:0000269|PubMed:17847007, ECO:0000269|PubMed:28589954, ECO:0000269|PubMed:29178643, ECO:0000305}.;

Disease

DISEASE: Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]: A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. {ECO:0000269|PubMed:17847007, ECO:0000269|PubMed:19471313, ECO:0000269|PubMed:19559398, ECO:0000269|PubMed:24458874, ECO:0000269|PubMed:28589954}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]: A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz- Passarge syndrome is a genodermatosis with skin appendage neoplasms. {ECO:0000269|PubMed:19559398, ECO:0000269|PubMed:21143469}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg-shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:21484994, ECO:0000269|PubMed:22581971, ECO:0000269|PubMed:23401279, ECO:0000269|PubMed:24311251, ECO:0000269|PubMed:24449199, ECO:0000269|PubMed:27657131, ECO:0000269|PubMed:29178643}. Note=The disease is caused by mutations affecting the gene represented in this entry.;