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DDG2P

Gene: ATG7

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease ATG7-related intellectual disability and ataxia, OMIM:619422 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:34161705).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ATG7-related intellectual disability and ataxia, OMIM:619422

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This gene will be added to the DDG2P at the next panel update using the Developmental disorders panel from the Gene2phenotype resource as a source. It is already flagged for promotion to green on the ID panel.
Created: 3 Aug 2022, 9:41 p.m. | Last Modified: 3 Aug 2022, 9:41 p.m.
Panel Version: 2.76
Created: 3 Aug 2022, 9:41 p.m.
Last Modified: 3 Aug 2022, 9:41 p.m.
Panel version: 2.76

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Zornitsa Stark wrote for this gene in Ataxia panel:
"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. "

Should be also on ID panel.
Sources: Literature
Created: 30 Oct 2021, 12:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; ataxia

Publications

Created: 30 Oct 2021, 12:04 p.m.

Panel version: 2.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATG7-related intellectual disability and ataxia, OMIM:619422
  • developmental delay
  • ataxia
OMIM
608760
Clinvar variants
Variants in ATG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATG7. Source DD-Gene2Phenotype was added to ATG7. Added phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422 for gene: ATG7 Publications for gene: ATG7 were updated from PMID:34161705 to 34161705; PMID:34161705 Rating Changed from No List (delete) to Green List (high evidence)

30 Oct 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN