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  2. Structural eye disease
  3. STRA6
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Structural eye disease

Gene: STRA6

Green List (high evidence)
STRA6 (stimulated by retinoic acid 6)
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 10 panels

2 reviews

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

Green List (high evidence)

Many families reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many families reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, syndromic 9, 601186
  • Microphthalmia, isolated, with coloboma 8, 601186
  • Syndromic Microphthalmia, Recessive
OMIM
610745
Clinvar variants
Variants in STRA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to STRA6. Added phenotypes Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186; Syndromic Microphthalmia, Recessive for gene: STRA6 Publications for gene STRA6 were changed from 17273977, 24859618 to 24859618; 17273977

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: STRA6 was added gene: STRA6 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRA6 were set to 17273977, 24859618 Phenotypes for gene: STRA6 were set to Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186