Ocular coloboma

Gene: MAB21L2

Green List (high evidence)

This is on our diagnostic panel in Edinburgh. Missense mutations of Arg51 or adjacent residues result in a variable phenotype of coloboma or anophthalmia with skeletal dysplasia

Created: 3 Dec 2016, 11:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coloboma; macrocephaly; rhizomelic skeletal dysplasia; anophthalmia

Publications

• PMID: 25719200
• PMID: 24906020

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Red List (low evidence)

Recognised on G2P as causing coloboma. Mutations identified in 8 patients from 5 different families with bilateral microphthalmia and coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia

Created: 17 Nov 2016, 9:54 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 14 615877

Publications

• 24906020