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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) are strong, biallelic_autosomal and loss of function (PMIDs: 27392078, 29074562, 30142437, 30300710, 30997404, 31953236, 35670385, 35699517, 37076692, 38333279). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02566.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID:27392078). The DDG2P confidence category for the disease Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29074562).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0014890; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa); OMIM:617055.0; KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures)

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.
Created: 27 Nov 2018, 10:20 a.m.
Original DDG2P rating: probable. DDG2P mode of pathogenicity: uncertain
Created: 19 Nov 2018, 11:30 a.m.

Phenotypes
Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
  • Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
OMIM
611119
Clinvar variants
Variants in KLHL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KLHL7 was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KLHL7. Publications for gene: KLHL7 were updated from 27392078 to 29074562; 27392078 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

27 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KLHL7 was added gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL7 were set to 27392078 Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments