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Intellectual disability syndromic and non-syndromic

Gene: KLHL7

Green List (high evidence)

KLHL7 (kelch like family member 7)
EnsemblGeneIds (GRCh38): ENSG00000122550
EnsemblGeneIds (GRCh37): ENSG00000122550
OMIM: 611119, Gene2Phenotype
KLHL7 is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures.

Reported in at least 5 unrelated families (4 consanguineous with rare variants) with affected individuals having evidence of DD or ID.
Created: 23 Oct 2024, 6:18 a.m. | Last Modified: 23 Oct 2024, 6:18 a.m.
Panel Version: 0.6549

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PERCHING syndrome MONDO:0014890; acrocallosal syndrome MONDO:0008708

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • PERCHING syndrome MONDO:0014890
  • acrocallosal syndrome MONDO:0008708
OMIM
611119
Clinvar variants
Variants in KLHL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl7 has been classified as Green List (High Evidence).

23 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome MONDO:0014890; acrocallosal syndrome MONDO:0008708

23 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLHL7 were set to 27392078; 30142437; 29074562

23 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLHL7 were set to

23 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL7 was added gene: KLHL7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLHL7 was set to Unknown