Intellectual disability
Gene: MAPRE2

MAPRE2 (microtubule associated protein RP/EB family member 2)
EnsemblGeneIds (GRCh38): ENSG00000166974
EnsemblGeneIds (GRCh37): ENSG00000166974
OMIM: 605789, Gene2Phenotype
MAPRE2 is in 5 panels

5 reviews

Sarah Leigh (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are sufficient cases to promote this gene rating to Green at the next GMS panel update (added 'for-review' tag). Also not all patients present other associated features for which this gene is on a panel (e.g. Clefting, Structural eye disease) and so ID should be a sufficient indication for detecting these cases.
Created: 11 Nov 2020, 4:20 p.m. | Last Modified: 11 Nov 2020, 4:20 p.m.

Panel Version: 3.514

At least 6 unrelated patients reported with different variants in the MAPRE2 gene. All present some degree of cognitive impairment/developmental delay, but biallelic cases most severely affected.
Created: 11 Nov 2020, 3:45 p.m. | Last Modified: 11 Nov 2020, 3:45 p.m.

Panel Version: 3.513

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Symmetric circumferential skin creases, congenital, 2, 616734

Publications

Created: 11 Nov 2020, 3:45 p.m.
Last Modified: 11 Nov 2020, 3:45 p.m.
Panel version: 3.513

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype, more severe in those with bi-allelic variants.
Created: 7 Mar 2020, 5:17 a.m. | Last Modified: 7 Mar 2020, 5:17 a.m.

Panel Version: 3.3

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Symmetric circumferential skin creases, congenital, 2, MIM# 616734

Publications

26637975

Created: 7 Mar 2020, 5:17 a.m.
Last Modified: 7 Mar 2020, 5:17 a.m.
Panel version: 3.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : all missense/in frame
Created: 27 Jul 2017, 7:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Mode of pathogenicity
Other

Created: 2 Aug 2017, 8:16 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 1:14 p.m.

Created: 28 Jul 2017, 1:14 p.m.

Panel version: 1.297

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Symmetric circumferential skin creases, congenital, 2, 616734

OMIM

605789

Clinvar variants

Variants in MAPRE2

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene