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  3. SALL2
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Anophthalmia_Microphthalmia_Coloboma

Gene: SALL2

Red List (low evidence)
SALL2 (spalt like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000165821
EnsemblGeneIds (GRCh37): ENSG00000165821
OMIM: 602219, Gene2Phenotype
SALL2 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, supportive functional data.
Sources: Other
Created: 10 Jan 2020, 1:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coloboma, ocular, autosomal recessive, MIM#16820

Publications

Created: 10 Jan 2020, 1:34 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Coloboma, ocular, autosomal recessive, MIM#16820
OMIM
602219
Clinvar variants
Variants in SALL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sall2 has been classified as Red List (Low Evidence).

10 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SALL2 was added gene: SALL2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Other 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, MIM#16820 Review for gene: SALL2 was set to RED