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  2. Anophthalmia or microphthalmia
  3. MAB21L2
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Anophthalmia or microphthalmia

Gene: MAB21L2

Green List (high evidence)
MAB21L2 (mab-21 like 2)
EnsemblGeneIds (GRCh38): ENSG00000181541
EnsemblGeneIds (GRCh37): ENSG00000181541
OMIM: 604357, Gene2Phenotype
MAB21L2 is in 6 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit evidence
Created: 10 May 2016, 12:11 p.m.
Created: 10 May 2016, 12:11 p.m.

Panel version: 0.30

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

MAB21L2 - Monoallelic - Missense Gain of Function. MAB21L2 - Biallelic - Loss Of Function
Created: 8 Dec 2015, 1:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 8 Dec 2015, 1:30 p.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 14, 615877
OMIM
604357
Clinvar variants
Variants in MAB21L2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for MAB21L2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MAB21L2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen