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  2. Hydrops fetalis
  3. KLHL40
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Hydrops fetalis

Gene: KLHL40

Amber List (moderate evidence)
KLHL40 (kelch like family member 40)
EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single report of hydrops in this condition, which typically causes fetal akinesia, polyhydramnios.
Created: 30 Dec 2019, 6:42 a.m. | Last Modified: 30 Dec 2019, 6:42 a.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 8, autosomal recessive, MIM# 615348

Publications

Created: 30 Dec 2019, 6:42 a.m.
Last Modified: 30 Dec 2019, 6:42 a.m.
Panel version: 0.77

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl40 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348

30 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLHL40 were set to

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl40 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL40 was added gene: KLHL40 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLHL40 was set to Unknown