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  3. ATAD1
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Genetic Epilepsy

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)

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Created: 11 Sep 2020, 7:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 4, MIM#618011

Publications

Created: 11 Sep 2020, 7:07 a.m.

Panel version: 0.853

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

11 Sep 2020, 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).

11 Sep 2020, 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).

11 Sep 2020, 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 Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011 Review for gene: ATAD1 was set to GREEN