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  3. KLHL40
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Fetal hydrops

Gene: KLHL40

No list
KLHL40 (kelch like family member 40)
EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

Gene causes fetal akinesia, however can only find one specific report of hydrops.
Sources: Expert list
Created: 30 Dec 2019, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 8, autosomal recessive, MIM# 615348

Publications

Created: 30 Dec 2019, 6:44 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
OMIM
615340
Clinvar variants
Variants in KLHL40
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KLHL40 was added gene: KLHL40 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 25721947 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348 Review for gene: KLHL40 was set to AMBER