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Intellectual disability syndromic and non-syndromic

Gene: METAP1

Red List (low evidence)

METAP1 (methionyl aminopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000164024
EnsemblGeneIds (GRCh37): ENSG00000164024
OMIM: 610151, Gene2Phenotype
METAP1 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Created: 1 Feb 2021, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability, aggression, neurodevelopmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability, aggression, neurodevelopmental delay
OMIM
610151
Clinvar variants
Variants in METAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: metap1 has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: metap1 has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: METAP1 was added gene: METAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METAP1 were set to 32764695 Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay Review for gene: METAP1 was set to RED gene: METAP1 was marked as current diagnostic