KLHL7

kelch like family member 7
OMIM: 611119
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cold-induced sweating syndrome 3 617055
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERCHING syndrome, OMIM:617055, PERCHING syndrome, MONDO:0014890
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BOS-like phenotype
R-numbers: R32
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa 42, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa, Retinitis pigmentosa 42, 612943