Hereditary spastic paraplegia - childhood onset

Gene: ATAD3A

Red List (low evidence)

ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 14 panels

2 reviews

Zornitza Stark (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. In addition, mother and child reported in PMID 28158749 with HSP and axonal neuropathy of childhood onset.
Created: 17 Sep 2020, 10:19 a.m. | Last Modified: 17 Sep 2020, 10:19 a.m.
Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Harel-Yoon syndrome, MIM# 617183

Publications

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Added as a Red gene based on the available literature. There is only one case. PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia.
Sources: Literature
Created: 24 Aug 2020, 3:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Harel-Yoon syndrome, 617183

Publications

History Filter Activity

24 Aug 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ATAD3A was added gene: ATAD3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATAD3A were set to 28158749 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183 Review for gene: ATAD3A was set to RED