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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

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. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.
Created: 7 Aug 2024, 6:37 a.m. | Last Modified: 7 Aug 2024, 6:37 a.m.
Panel Version: 1.82

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

Created: 7 Aug 2024, 6:37 a.m.
Last Modified: 7 Aug 2024, 6:37 a.m.
Panel version: 1.82

Details

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

History Filter Activity

8 Aug 2024, 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).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATAD1 were changed from Hyperekplexia 4, 618011 (3), Autosomal recessive to Hyperekplexia 4, MIM#618011

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATAD1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATAD1 was added gene: ATAD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive