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  2. Intellectual disability syndromic and non-syndromic
  3. MCM3AP
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Intellectual disability syndromic and non-syndromic

Gene: MCM3AP

Green List (high evidence)
MCM3AP (minichromosome maintenance complex component 3 associated protein)
EnsemblGeneIds (GRCh38): ENSG00000160294
EnsemblGeneIds (GRCh37): ENSG00000160294
OMIM: 603294, Gene2Phenotype
MCM3AP is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 32202298 - Woldegebriel et al 2020 - report a further two families, one in the Netherlands and one in Estonia, with probands with compound heterozygous variants in MCM3AP and a peripheral neuropathy with or without impaired intellectual development (MIM 618124) phenotype. The child from the Netherlands presented with severe hypotonia and intellectual disability. The two siblings from the Estonian family had severe generalized epilepsy and mild spastic diplegia. Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.
Created: 1 Jul 2020, 7:26 a.m. | Last Modified: 1 Jul 2020, 7:26 a.m.
Panel Version: 0.2724
ID is a feature in many of the reported individuals.
Sources: Expert list
Created: 7 Mar 2020, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124

Publications

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

Created: 7 Mar 2020, 6:44 a.m.

Panel version: 0.2724

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124
OMIM
603294
Clinvar variants
Variants in MCM3AP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295

7 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm3ap has been classified as Green List (High Evidence).

7 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm3ap has been classified as Green List (High Evidence).

7 Mar 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: MCM3AP was added gene: MCM3AP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list 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 Review for gene: MCM3AP was set to GREEN gene: MCM3AP was marked as current diagnostic