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Prepair 1000+

Gene: INPP5E

Green List (high evidence)

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 15 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

2 AR conditions associated with this gene: JBTS & MORM

HGNC approved symbol: INPP5E
Is the phenotype severe and early onset ,18yo? Y
Created: 23 Oct 2024, 12:41 a.m. | Last Modified: 23 Oct 2024, 12:41 a.m.
Panel Version: 1.470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 1, MIM# 213300
  • MONDO:0008944
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156
  • MONDO:0012423
OMIM
613037
Clinvar variants
Variants in INPP5E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inpp5e has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423

24 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INPP5E were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 1, 213300 (3) for gene: INPP5E

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPP5E was added gene: INPP5E was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)