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Mendeliome

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

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 20 Apr 2020, 4:51 a.m. | Last Modified: 20 Apr 2020, 6:18 a.m.
Panel Version: 0.2440

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microphthalmia; cataract; glaucoma; congenital retinal nonattachment

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900
  • microphthalmia
  • cataract
  • glaucoma
  • congenital retinal nonattachment
OMIM
609875
Clinvar variants
Variants in ATOH7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATOH7 were set to

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATOH7 was added gene: ATOH7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATOH7 was set to Unknown