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  2. Anophthalmia_Microphthalmia_Coloboma
  3. SALL4
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Anophthalmia_Microphthalmia_Coloboma

Gene: SALL4

Green List (high evidence)
SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Created: 24 Dec 2019, 12:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Duane-radial ray syndrome, MIM#607323

Created: 24 Dec 2019, 12:14 a.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Duane-radial ray syndrome, MIM#607323
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sall4 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sall4 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SALL4 was added gene: SALL4 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, MIM#607323 Review for gene: SALL4 was set to GREEN