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Fetal anomalies

Gene: KLHL41

Green List (high evidence)

KLHL41 (kelch like family member 41)
EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Biallelic inheritance. Sufficient (>3) unrelated cases in OMIM to support gene:disease association.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Nemaline myopathy 615731
OMIM
607701
Clinvar variants
Variants in KLHL41
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KLHL41 was added gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731