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Intellectual disability syndromic and non-syndromic

Gene: MAPRE2

Green List (high evidence)

MAPRE2 (microtubule associated protein RP/EB family member 2)
EnsemblGeneIds (GRCh38): ENSG00000166974
EnsemblGeneIds (GRCh37): ENSG00000166974
OMIM: 605789, Gene2Phenotype
MAPRE2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype, more severe in those with bi-allelic variants.
Sources: Expert list
Created: 7 Mar 2020, 5:19 a.m.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, MIM# 616734
OMIM
605789
Clinvar variants
Variants in MAPRE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mapre2 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: mapre2 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: MAPRE2 was added gene: MAPRE2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, MIM# 616734 Review for gene: MAPRE2 was set to GREEN