Regression
Gene: INPP5EEnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not progressive conditions.Created: 20 Mar 2021, 12:49 a.m. | Last Modified: 20 Mar 2021, 12:49 a.m.
Panel Version: 0.253
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 Red
- Victorian Clinical Genetics Services
- 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
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Fetal anomalies
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Severe early-onset obesity
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: inpp5e has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: INPP5E were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: inpp5e has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: INPP5E was added gene: INPP5E was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5E was set to Unknown