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  3. MAP4K4
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Rasopathy

Gene: MAP4K4

Green List (high evidence)
MAP4K4 (mitogen-activated protein kinase kinase kinase kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000071054
EnsemblGeneIds (GRCh37): ENSG00000071054
OMIM: 604666, Gene2Phenotype
MAP4K4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies.
Sources: Literature
Created: 1 Jun 2023, 1:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RASopathy, MONDO:0021060, MAP4K4-related

Publications

Created: 1 Jun 2023, 1:19 a.m.

Panel version: 0.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related
OMIM
604666
Clinvar variants
Variants in MAP4K4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map4k4 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map4k4 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP4K4 was added gene: MAP4K4 was added to Rasopathy. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to 37126546 Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related Review for gene: MAP4K4 was set to GREEN