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  3. ATOH7
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Vitreoretinopathy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least four unrelated families reported.
Created: 20 Apr 2020, 10:39 a.m. | Last Modified: 20 Apr 2020, 10:39 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Apr 2020, 10:39 a.m.
Last Modified: 20 Apr 2020, 10:39 a.m.
Panel version: 0.2

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

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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