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  2. Structural eye disease
  3. SALL2
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Structural eye disease

Gene: SALL2

Amber List (moderate evidence)
SALL2 (spalt like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000165821
EnsemblGeneIds (GRCh37): ENSG00000165821
OMIM: 602219, Gene2Phenotype
SALL2 is in 2 panels

2 reviews

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

I don't know

Kelberman: one family plus mouse model
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coloboma, ocular, autosomal recessive; 216820

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kelberman: one family plus mouse model
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coloboma, ocular, autosomal recessive, 216820

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

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

Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Coloboma, ocular, autosomal recessive, 216820
OMIM
602219
Clinvar variants
Variants in SALL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SALL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SALL2 were changed from Coloboma, ocular, autosomal recessive, 216820; Coloboma, ocular, autosomal recessive 216820 to Coloboma, ocular, autosomal recessive, 216820

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SALL2. Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SALL2 was added gene: SALL2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SALL2 were set to 24412933 Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive 216820