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  2. Familial non syndromic congenital heart disease
  3. SHROOM3
STRs in panel
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Familial non syndromic congenital heart disease

Gene: SHROOM3

Amber List (moderate evidence)
SHROOM3 (shroom family member 3)
EnsemblGeneIds (GRCh38): ENSG00000138771
EnsemblGeneIds (GRCh37): ENSG00000138771
OMIM: 604570, Gene2Phenotype
SHROOM3 is in 4 panels

1 review

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Further evidence needed to assess causation, inheritance and phenotype. Not considered diagnostic grade but worth being on the watchlist.
Created: 4 Jul 2017, 7:45 a.m.
Comment on list classification: Only one case to date. Watchlist
Created: 4 Jul 2017, 7:44 a.m.
One potential case of isomerism to date. Further evidence needed.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
Unknown

Phenotypes
Heterotaxy

Publications

Created: 4 Jul 2017, 7:24 a.m.

Panel version: 1.8

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heterotaxy
Tags
watchlist
OMIM
604570
Clinvar variants
Variants in SHROOM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Jul 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

SHROOM3 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SHROOM3 was created by helen.brittain