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Glaucoma (developmental)

Gene: ATOH7

Red List (low evidence)

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

3 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Khan: two families, also animal model by Brown
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia); 221900

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:38 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Khan: two families, also animal model by Brown
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900

Publications

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

Chris Campbell (NHS)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment

Publications

  • 1838
  • 8779

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Red
  • GDL Glaucoma panel
Phenotypes
  • AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
OMIM
609875
Clinvar variants
Variants in ATOH7
Penetrance
Complete
Publications
  • 1838
  • 8779
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

12 Apr 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Mar 2017, Gel status: 0

Created

Chris Campbell (NHS)

ATOH7 was created by Chricampbell

17 Mar 2017, Gel status: 0

Added New Source

Chris Campbell (NHS)

ATOH7 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel