MKKS

McKusick-Kaufman syndrome
OMIM: 604896, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green MKKS in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231)
Green MKKS in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Retinitis pigmentosa
Red MKKS in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome (MIM#236700)
Green MKKS in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Retinitis pigmentosa
Green MKKS in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green MKKS in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700
Green MKKS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green MKKS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Polydactyly McKusick-Kaufman syndrome, 236700
Amber MKKS in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231
Green MKKS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes McKusick-Kaufman syndrome, 236700 (3)
Green MKKS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome
Green MKKS in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes McKusick-Kaufman syndrome, MIM# 236700 Bardet-Biedl syndrome 6, MIM# 605231
Green MKKS in Severe early-onset obesity Level 2: Endocrine disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bardet-Biedl syndrome 6, OMIM:605231 Obesity
Green MKKS in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes McKusick-Kaufman syndrome, 236700 (3)
Red MKKS in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700
Green MKKS in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes McKusick-Kaufman syndrome, 236700 (3)