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  3. ATAD3A
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Hereditary Spastic Paraplegia - paediatric

Gene: ATAD3A

Green List (high evidence)
ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families with recurrent de novo missense, p.Arg528Trp with syndromic neurodevelopmental disorder characterised by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Mother and child reported in PMID 28158749 with HSP and axonal neuropathy of childhood onset.
Created: 17 Sep 2020, 10:17 a.m. | Last Modified: 17 Sep 2020, 10:17 a.m.
Panel Version: 0.118

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Harel-Yoon syndrome, MIM# 617183

Publications

Created: 17 Sep 2020, 10:17 a.m.
Last Modified: 17 Sep 2020, 10:17 a.m.
Panel version: 0.118

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Harel-Yoon syndrome, MIM# 617183
OMIM
612316
Clinvar variants
Variants in ATAD3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atad3a has been classified as Green List (High Evidence).

17 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome to Harel-Yoon syndrome, MIM# 617183

17 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATAD3A were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATAD3A was added gene: ATAD3A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome