Genomics England

MKKS

McKusick-Kaufman syndrome

Panel	Mode of inheritance	Details
Filter panels10 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 4.15	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 4.195	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 7.51	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 6.16	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 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Bardet-Biedl syndrome 6, 605231, McKusick-Kaufman syndrome, 236700