Ocular coloboma
Gene: MAB21L2
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 dysplasiaCreated: 3 Dec 2016, 11:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coloboma; macrocephaly; rhizomelic skeletal dysplasia; anophthalmia
Publications
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
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 dysplasiaCreated: 17 Nov 2016, 9:54 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 14 615877
Publications
Promoted to version 1 on 6th February 2016 by Alice Gardham
This gene has been classified as Green List (High Evidence).
Publications for MAB21L2 were set to PMID: 25719200; PMID: 24906020
This gene has been classified as Green List (High Evidence).
MAB21L2 was created by agardham
MAB21L2 was added to Ocular colobomapanel. Sources: Literature