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Intellectual disability

Gene: KLHL7

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. KLHL7 is associated with Cold-induced sweating syndrome 3 (OMIM: 617055) in OMIM and Gene2Phenotype, but not BOS-like phenotype. There are 7 unrelated cases (PMID: 29074562, 30300710) from 5 unrelated families with affected individuals with BOS-like phenotype, global developmental delay and IUGR, who have different variants (nonsense, splicing and small deletions) in the KLHL7 gene.
There is also several cases (PMID: 30142437, being one reported case) of patients with variants in KLHL7 who have phenotypes that overlap Cold-induced sweating syndrome 3 and BOS-like phenotype. This patient also had global developmental delay and a variant different from those reported in PMID: 29074562, 30300710.

Therefore, there is enough evidence to promote this gene to green status.
Created: 27 Jun 2019, 4:16 p.m. | Last Modified: 27 Jun 2019, 4:16 p.m.
Panel Version: 2.904

Zornitza Stark (Australian Genomics)

Green List (high evidence)

6 unrelated individuals reported with bi-allelic LoF variants and a BOS-like phenotype, ID is a feature.
Created: 22 Jun 2018, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BOS-like phenotype

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • BOS-like phenotype
OMIM
611119
Clinvar variants
Variants in KLHL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KLHL7 were set to 29074562

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KLHL7.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

KLHL7 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

KLHL7 was created by Zornitza Stark