Ocular coloboma

Gene: YAP1

Recorded 'incomplete penetrance' for YAP based on two papers: In Oatts et al., 2016 (PMID:27267789) the heterozygous mutation F95S was found in both affected half brothers, as well as their unaffected mother. In family 1305 in Williamson et al., 2014 (PMID:24462371) the R124X mutation was inherited from an unaffected grandfather. Plus clinical information that incomplete penetrance is often seen for ocular coloboma.

Created: 2 Feb 2017, 9:29 a.m.

Additional family report for novel heterozygous variants: PMID: 27267789.

Created: 31 Jan 2017, 5:30 p.m.

Phenotypes
isolated ocular coloboma

Publications

• 27267789

Green List (high evidence)

This gene causes coloboma in both humans and zebrafish. This gene was identified via exome sequencing but segregation in the families gave a combined LOD score of >4. The phenotype can be complex in humans with one family in the paper having isolated coloboma and the other having syndromal coloboma with clefting, ID, nonprogressive nephrophathy and deafness. This complexity relates to the different transciptional start sites in the gene that can make stop codons have differential effects depending on their position in the gene

Created: 3 Dec 2016, 11:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ocular Coloboma; Cleft lip; Deafness; Nephropathy; intellectual disability

Publications

• PMID 24462371
• PMID: 26209646

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Recognised on G2P as causing coloboma. Only reported in two families but in multiple affected family members. One report of non-penetrance

Created: 17 Nov 2016, 9:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433

Publications

• 24462371