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  2. Radial Ray Abnormalities
  3. SALL1
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Radial Ray Abnormalities

Gene: SALL1

Green List (high evidence)
SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 24 Apr 2021, 4:32 a.m. | Last Modified: 24 Apr 2021, 4:32 a.m.
Panel Version: 0.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Townes-Brocks syndrome 1, MIM#107480; MONDO:0054581

Created: 24 Apr 2021, 4:31 a.m.
Last Modified: 24 Apr 2021, 4:31 a.m.
Panel version: 0.139

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Townes-Brocks syndrome 1, MIM#107480
  • MONDO:0054581
OMIM
602218
Clinvar variants
Variants in SALL1
Penetrance
None
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sall1 has been classified as Green List (High Evidence).

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480; MONDO:0054581

24 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SALL1 was added gene: SALL1 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SALL1 was set to Unknown