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Cerebral Palsy

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

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Homozygous founder variant in ADAT3 (p.V144M) reported in two cohort studies of children diagnosed with cerebral palsy (PMIDs 35076175; 34321325).

Tone abnormalities, including spasticity and hypotonia, are frequently reported in individuals from additional families with the same variant (PMID 26842963, 11 families, variant also called V128M) and are variable within families. Intellectual disability/developmental delay are always present and the majority with strabismus and growth failure.
Sources: Literature
Created: 14 Jul 2022, 7:29 a.m. | Last Modified: 14 Jul 2022, 7:29 a.m.
Panel Version: 1.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MIM #615286

Publications

Created: 14 Jul 2022, 7:29 a.m.
Last Modified: 14 Jul 2022, 7:29 a.m.
Panel version: 1.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM# 615286
OMIM
615302
Clinvar variants
Variants in ADAT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, 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).

14 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAT3 were changed from MIM #615286 to Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM# 615286

14 Jul 2022, 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).

14 Jul 2022, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: ADAT3 was added gene: ADAT3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAT3 were set to 35076175; 34321325 Phenotypes for gene: ADAT3 were set to MIM #615286 Review for gene: ADAT3 was set to GREEN