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  2. Periventricular Grey Matter Heterotopia
  3. SYNCRIP
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Periventricular Grey Matter Heterotopia

Gene: SYNCRIP

Red List (low evidence)
SYNCRIP (synaptotagmin binding cytoplasmic RNA interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000135316
EnsemblGeneIds (GRCh37): ENSG00000135316
OMIM: 616686, Gene2Phenotype
SYNCRIP is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One of 8 individuals reported so far had PVNH.
Sources: Literature
Created: 5 Sep 2021, 3:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SYNCRIP-related neurodevelopmental disorder

Publications

Created: 5 Sep 2021, 3:16 a.m.

Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • SYNCRIP-related neurodevelopmental disorder
OMIM
616686
Clinvar variants
Variants in SYNCRIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNCRIP was added gene: SYNCRIP was added to Periventricular Grey Matter Heterotopia. Sources: Literature Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNCRIP were set to 34157790 Phenotypes for gene: SYNCRIP were set to SYNCRIP-related neurodevelopmental disorder Review for gene: SYNCRIP was set to RED