MAP4K4:Ensemblv90

mitogen-activated protein kinase kinase kinase kinase 4
OMIM: 604666, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MAP4K4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green MAP4K4 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.111

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related

Green MAP4K4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related