Cataract
Gene: AICDA
AICDA (activation induced cytidine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 7 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
OMIM phenotype 605258 - immunodeficiency with hyper-IgM type 2. No mention of cataracts in phenotype.
Original description (PMID 11007475) - no reference to cataracts in phenotype.
There are further reports (PMID 27789066; 27142677; 19575287) with no reference to cataracts in the phenotype.
Cataracts do not seem to be a common feature in this phenotype.Created: 20 Mar 2020, 3:18 a.m. | Last Modified: 20 Mar 2020, 3:18 a.m.
Panel Version: 0.19
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency with hyper-IgM, type 2 605258
- OMIM
- 605257
- Clinvar variants
- Variants in AICDA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aicda has been classified as Red List (Low Evidence).
20 Mar 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2 605258
20 Mar 2020, Gel status: 1
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AICDA were set to
20 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aicda 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: AICDA was added gene: AICDA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AICDA was set to Unknown