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  3. MAPRE2
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Clefting

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 5 panels

2 reviews

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 2.63
Created: 3 Mar 2022, 4:45 p.m.
Last Modified: 3 Mar 2022, 4:45 p.m.
Panel version: 2.63

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Four families reported. Clefting is a feature
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, 616734
OMIM
605789
Clinvar variants
Variants in MAPRE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert list was added to MAPRE2.

11 Nov 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAPRE2 were changed from SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 to Symmetric circumferential skin creases, congenital, 2, 616734

11 Nov 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAPRE2 were set to

11 Nov 2020, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MAPRE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAPRE2 was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPRE2 was added to Cleftingpanel. Sources: Expert Review Green