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Intellectual disability syndromic and non-syndromic

Gene: ATAD1

Green List (high evidence)

ATAD1 (ATPase family, AAA domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe progressive neurological disorder, severe/profound intellectual disability is a feature
Sources: Expert list
Created: 23 Nov 2019, 8:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 4, MIM#618011

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperekplexia 4, MIM#618011
OMIM
614452
Clinvar variants
Variants in ATAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atad1 has been classified as Green List (High Evidence).

7 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atad1 has been classified as Green List (High Evidence).

23 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATAD1 was added gene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011 Review for gene: ATAD1 was set to GREEN gene: ATAD1 was marked as current diagnostic