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  3. HAND2
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Familial non syndromic congenital heart disease

Gene: HAND2

Red List (low evidence)
HAND2 (heart and neural crest derivatives expressed 2)
EnsemblGeneIds (GRCh38): ENSG00000164107
EnsemblGeneIds (GRCh37): ENSG00000164107
OMIM: 602407, Gene2Phenotype
HAND2 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Insufficient evidence at present. Not recognised on OMIM/G2P
Created: 28 Nov 2016, 2:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot, Ventricular septal defect

Publications

Created: 28 Nov 2016, 2:08 p.m.

Panel version: 0.5

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Topf (2014) PLoS One 9,e95453)
OMIM
602407
Clinvar variants
Variants in HAND2
Penetrance
Complete
Publications
  • http://dx.doi.org/10.1371/journal.pone.0095453
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HAND2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HAND2 was created by ellenmcdonagh