Genomics England
GMS Panels
Panels
Genes and Entities

MKKS

McKusick-Kaufman syndrome
OMIM: 604896
PanelMode of inheritanceDetails
10 panels
Green
in Bardet Biedl syndrome
R-numbers: R107
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 6, 605231, McKusick-Kaufman syndrome, 236700
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 6 209900, MCKUSICK-KAUFMAN SYNDROME 236700
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 6, MCKUSICK-KAUFMAN SYNDROME
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
McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900, MCKUSICK-KAUFMAN SYNDROME (MKKS)
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 6, 605231, McKusick-Kaufman syndrome, 236700
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 6, 236700
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 6, 236700
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 6, OMIM:605231
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 6, 605231, McKusick-Kaufman syndrome, 236700