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  2. Undiagnosed neurocutaneous disorders
  3. SNAI2
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Undiagnosed neurocutaneous disorders

Gene: SNAI2

Green List (high evidence)
SNAI2 (snail family transcriptional repressor 2)
EnsemblGeneIds (GRCh38): ENSG00000019549
EnsemblGeneIds (GRCh37): ENSG00000019549
OMIM: 602150, Gene2Phenotype
SNAI2 is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Regarding the mode of inheritance: biallelic was collected for WAARDENBURG SYNDROME, TYPE 2D (WS2D) and PIEBALD TRAIT (PBT) from the UKGTN, whereas Monoallelic was collected for Waardenburg Syndrome and Piebald trait from Illumina, therefore here "Both" has been assigned.
Created: 10 Dec 2015, 2:14 p.m.
Created: 10 Dec 2015, 2:14 p.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 2D, 608890
  • Piebaldism, 172800
  • Waardenburg Syndrome
  • Piebald Trait
  • WAARDENBURG SYNDROME, TYPE 2D (WS2D)
  • PIEBALD TRAIT (PBT)
OMIM
602150
Clinvar variants
Variants in SNAI2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Dec 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN

10 Dec 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SNAI2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Dec 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen

10 Dec 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SNAI2 was created by ellenmcdonagh