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Callosome
Gene: SNIP1

SNIP1 (Smad nuclear interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163877
EnsemblGeneIds (GRCh37): ENSG00000163877
OMIM: 608241, Gene2Phenotype
SNIP1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four Amish individuals with same homozygous variant, founder effect.
Created: 27 Feb 2020, 3:41 a.m. | Last Modified: 4 Oct 2021, 7:07 a.m.

Panel Version: 0.326

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

Publications

Created: 27 Feb 2020, 3:41 a.m.
Last Modified: 4 Oct 2021, 7:07 a.m.
Panel version: 0.326

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

Tags

founder

OMIM

Clinvar variants

Variants in SNIP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNIP1 were set to 22279524

4 Oct 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SNIP1.

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snip1 has been classified as Red List (Low Evidence).

27 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

27 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

27 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNIP1 were set to

27 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snip1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNIP1 was added gene: SNIP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNIP1 was set to Unknown