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Intellectual disability

Gene: ATG7

Green List (high evidence)
ATG7 (autophagy related 7)
EnsemblGeneIds (GRCh38): ENSG00000197548
EnsemblGeneIds (GRCh37): ENSG00000197548
OMIM: 608760, Gene2Phenotype
ATG7 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Comment on list classification: New gene added by Zornitza Stark and based on the evidence provided this gene should be promoted to Green at the next GMS panel update. ATG7 is associated with a relevant phenotype in OMIM (MIM# 34161705) and has a 'strong' disease confidence classification for this phenotype in G2P.

Collier et al. 2021 (PMID: 34161705) identified 5 unrelated families with distinct ATG7 variants and a neurodevelopmental disorder which mainly comprised cerebellar ataxia (11/11), mild-to-severe ID (12/12), optic atrophy (7/11), among other features.
Created: 27 Jul 2022, 1:58 p.m. | Last Modified: 27 Jul 2022, 1:58 p.m.
Panel Version: 2.298
Created: 27 Jul 2022, 1:58 p.m.
Last Modified: 27 Jul 2022, 1:58 p.m.
Copied from panel: Ataxia and cerebellar anomalies - narrow panel v2.298

Zornitza Stark (Australian Genomics)

Green List (high evidence)

12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Created: 7 Aug 2021, 1:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, SCAR31, MIM#619422

Publications

Created: 7 Aug 2021, 1:48 a.m.

Copied from panel: Ataxia and cerebellar anomalies - narrow panel v2.298

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
OMIM
608760
Clinvar variants
Variants in ATG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: ATG7.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to ATG7. Source Expert Review Green was added to ATG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Jul 2022, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: ATG7 was added gene: ATG7 was added to Intellectual disability. Sources: Literature,Expert Review Amber Q3_22_rating tags were added to gene: ATG7. Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 34161705 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422