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DDG2P

Gene: ATOH7

Green List (high evidence)
ATOH7 (atonal bHLH transcription factor 7)
EnsemblGeneIds (GRCh38): ENSG00000179774
EnsemblGeneIds (GRCh37): ENSG00000179774
OMIM: 609875, Gene2Phenotype
ATOH7 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ATOH7-related persistent hyperplastic primary vitreous are strong, biallelic_autosomal and loss of function (PMIDs: 21441919, 22068589, 22645276, 26933893, 28192794). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00770.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 28192794;22068589;22645276;21441919;26933893).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation.
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
ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900; ATOH7-related persistent hyperplastic primary vitreous; OMIM:221900.0; MONDO:0009097

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: cis-regulatory or promotor mutation
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900
OMIM
609875
Clinvar variants
Variants in ATOH7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ATOH7 was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ATOH7 were changed from RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 to ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATOH7 were set to

21 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATOH7. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ATOH7 was added gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments