Genomics England
GMS Panels
Panels
Genes and Entities

KLHL7

kelch like family member 7
OMIM: 611119
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cold-induced sweating syndrome 3 617055
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERCHING syndrome, OMIM:617055, PERCHING syndrome, MONDO:0014890
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BOS-like phenotype
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa 42, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa, Retinitis pigmentosa 42, 612943