Ocular coloboma

Gene: STRA6

Green List (high evidence)

STRA6 (stimulated by retinoic acid 6)
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 11 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Usually occurs with microphthalmia
Created: 16 Nov 2016, 12:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Microphthalmia, syndromic 9 601186; Microphthalmia, isolated, with coloboma 8 601186



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
Clinvar variants
Variants in STRA6
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for STRA6 were set to 17273977, 24859618

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

STRA6 was added to Ocular colobomapanel. Sources: Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

16 Nov 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene STRA6 was set to BIALLELIC, autosomal or pseudoautosomal

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

STRA6 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen