Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: ADAT3

Green List (high evidence)

ADAT3 (adenosine deaminase, tRNA specific 3)
EnsemblGeneIds (GRCh38): ENSG00000213638
EnsemblGeneIds (GRCh37): ENSG00000213638
OMIM: 615302, Gene2Phenotype
ADAT3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

19 unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability, founder effect postulated. However, another family also reported with a different homozygous variant, lending further support for gene-disease association.
Created: 23 Nov 2019, 2:17 a.m. | Last Modified: 23 Nov 2019, 2:17 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 36, MIM#615286

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 36, MIM#615286
OMIM
615302
Clinvar variants
Variants in ADAT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adat3 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286

6 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADAT3 were set to

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAT3 was added gene: ADAT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ADAT3 was set to Unknown