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  3. INPP5E
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Structural eye disease

Gene: INPP5E

Green List (high evidence)
INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels

2 reviews

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

Green List (high evidence)

Travaglini: 3 families with coloboma; Brooks one family; Luo: zebrafish model
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 213300; 610156

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Travaglini: 3 families with coloboma; Brooks one family; Luo: zebrafish model
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

History Filter Activity

17 Apr 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INPP5E. Source Expert Review Green was added to INPP5E. Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135 Rating Changed from Red List (low evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: INPP5E was added gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome