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Cataract

Gene: SH2D1A

Red List (low evidence)
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence that cataracts is a feature of this condition.
Created: 15 Apr 2020, 3:54 a.m. | Last Modified: 15 Apr 2020, 3:54 a.m.
Panel Version: 0.124

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lymphoproliferative syndrome, X-linked, 1 MIM#308240

Created: 15 Apr 2020, 3:54 a.m.
Last Modified: 15 Apr 2020, 3:54 a.m.
Panel version: 0.124

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sh2d1a has been classified as Red List (Low Evidence).

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sh2d1a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SH2D1A was added gene: SH2D1A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH2D1A was set to Unknown