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  3. MAB21L2
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Structural eye disease

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Rainger et al. 2014: five unrelated families. All variants reported are missense - loss of function
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 14, 615877

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Rainger et al. 2014: five unrelated families. All variants reported are missense - loss of function
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 14, 615877

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, syndromic 14, 615877
OMIM
604357
Clinvar variants
Variants in MAB21L2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAB21L2. Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAB21L2 was added gene: MAB21L2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020; 25719200 Phenotypes for gene: MAB21L2 were set to Microphthalmia, syndromic 14, 615877