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Intellectual disability syndromic and non-syndromic

Gene: AP2M1

Green List (high evidence)

AP2M1 (adaptor related protein complex 2 mu 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000161203
EnsemblGeneIds (GRCh37): ENSG00000161203
OMIM: 601024, Gene2Phenotype
AP2M1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Created: 7 Jan 2020, 7:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder 60 with seizures, MIM# 618587

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder 60 with seizures, MIM# 618587
OMIM
601024
Clinvar variants
Variants in AP2M1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap2m1 has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap2m1 has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP2M1 was added gene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AP2M1 were set to 31104773 Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587 Review for gene: AP2M1 was set to GREEN