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  3. MAPRE2
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Structural eye disease

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Isrie reports four families with CSCSC2 and MAPRE variants. One case has homozygous missense parents heterozygous, one case was homozygous missense, parents unavailable, one case was heterozygous missense de novo, last one is heterozygous nonsense inherited from mother with similar facial phenotype. There is no mention of an eye phenotype in the zebrafish model.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, 616734
OMIM
605789
Clinvar variants
Variants in MAPRE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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, 616734 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 26637975

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

1 Oct 2019, Gel status: 3

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to MAPRE2. Source NHS GMS was added to MAPRE2. Publications for gene MAPRE2 were changed from to 26637975 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to MAPRE2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MAPRE2 was added gene: MAPRE2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAPRE2 were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734