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Gene: ATOH7

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

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital onset.
Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).
Created: 7 Aug 2024, 7:05 a.m. | Last Modified: 7 Aug 2024, 7:05 a.m.

Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Aug 2024, 7:05 a.m.
Last Modified: 7 Aug 2024, 7:05 a.m.
Panel version: 1.82

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)

OMIM

609875

Clinvar variants

Variants in ATOH7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: atoh7 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ATOH7 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATOH7 was added gene: ATOH7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)

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