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Fetal anomalies

Gene: ADA

Red List (low evidence)

ADA (adenosine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is typically post-natal.
Created: 19 Dec 2021, 11:47 p.m. | Last Modified: 19 Dec 2021, 11:47 p.m.
Panel Version: 0.1450

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

This gene causes Severe Combined Immunodeficiency due to ADA deficiency in biallelic form. Cataracts do not appear to be a significant part of this phenotype (not mentioned in OMIM, Gene Reviews, Nelson Textbook of Pediatrics, no patients identified). This gene is not on the cataract panel for PanelApp England.
Created: 20 Mar 2020, 1:35 a.m. | Last Modified: 20 Mar 2020, 1:35 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SCID-ADA

Details

History Filter Activity

19 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADA was added gene: ADA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY