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Intellectual disability v3.126 MCM3AP Eleanor Williams Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295; 32202298
Intellectual disability v3.125 MCM3AP Eleanor Williams Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295; 32202298
Intellectual disability v3.124 MCM3AP Eleanor Williams Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295; 32202298
Intellectual disability v3.124 MCM3AP Eleanor Williams Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Intellectual disability v3.123 MCM3AP Eleanor Williams reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32202298; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.675 MCM3AP Ivone Leong Classified gene: MCM3AP as Green List (high evidence)
Intellectual disability v2.675 MCM3AP Ivone Leong Added comment: Comment on list classification: MCM3AP has been given a green gene rating, based on the evidence provided by Konstantinos Varvagiannis (Other) and that there are >3 cases of unrelated patients with variants in MCM3AP who have ID. The gene is associated with a phenotype on OMIM but not Gene2Phenotype.
Intellectual disability v2.675 MCM3AP Ivone Leong Gene: mcm3ap has been classified as Green List (High Evidence).
Intellectual disability v2.670 MCM3AP Ivone Leong Phenotypes for gene: MCM3AP were changed from Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124) to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Intellectual disability v2.574 MCM3AP Konstantinos Varvagiannis gene: MCM3AP was added
gene: MCM3AP was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124)
Penetrance for gene: MCM3AP were set to Complete
Review for gene: MCM3AP was set to AMBER
gene: MCM3AP was marked as current diagnostic
Added comment: Biallelic mutations in MCM3AP cause Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124).

All relevant publications [PMIDs: 24123876, 28633435 (first detailed description of a series of patients with functional studies), 28969388, 29982295) are summarized in OMIM.

Overall more than 18 patients from 10 families and at least 8 pathogenic variants have been reported.

Apart from abnormal motor development which may be associated with the sensorimotor neuropathy, intellectual disability was a feature in several individuals (although not a universal one).

Some patients were initially evaluated for their ID while investigations for the neuropathy may be conducted late (as evident in PMID: 28633435).

MCM3AP is included in gene panels for intellectual disability offered by diagnostic laboratories.

As a result, this gene can be considered for inclusion in the ID panel as amber or green (depending on its relevance to the specific panel).
Sources: Literature