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Mendeliome

Gene: SIN3A

Green List (high evidence)

SIN3A (SIN3 transcription regulator family member A)
EnsemblGeneIds (GRCh38): ENSG00000169375
EnsemblGeneIds (GRCh37): ENSG00000169375
OMIM: 607776, Gene2Phenotype
SIN3A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

9 patients from 5 unrelated families reported with heterozygous truncating mutations in the SIN3A gene. Features include intellectual disability, ASD, seizures, dysmorphism, short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria.
Created: 20 Jan 2022, 9:57 a.m. | Last Modified: 20 Jan 2022, 9:57 a.m.
Panel Version: 0.10695

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Witteveen-Kolk syndrome, OMIM # 613406

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Witteveen-Kolk syndrome, OMIM # 613406
OMIM
607776
Clinvar variants
Variants in SIN3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sin3a has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIN3A were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SIN3A 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: SIN3A was added gene: SIN3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIN3A was set to Unknown