Anophthalmia_Microphthalmia_Coloboma
Gene: MAB21L2

MAB21L2 (mab-21 like 2)
EnsemblGeneIds (GRCh38): ENSG00000181541
EnsemblGeneIds (GRCh37): ENSG00000181541
OMIM: 604357, Gene2Phenotype
MAB21L2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Created: 27 Dec 2020, 3:13 a.m. | Last Modified: 27 Dec 2020, 3:18 a.m.

Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Publications

Created: 27 Dec 2020, 3:13 a.m.
Last Modified: 27 Dec 2020, 3:18 a.m.
Panel version: 0.103

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

OMIM

604357

Clinvar variants

Variants in MAB21L2

Penetrance

None

Publications

Panels with this gene