Renal Ciliopathies and Nephronophthisis
Gene: NPHP1EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Some individuals have features consistent with a broader ciliopathy phenotype, most commonly Senior-Loken and Joubert syndromes.
Note NPHP1 deletions are common.Created: 23 Sep 2020, 9:49 p.m. | Last Modified: 23 Sep 2020, 9:49 p.m.
Panel Version: 0.113
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1, juvenile, MIM# 256100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Nephronophthisis 1, juvenile, MIM# 256100
- Tags
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Common deletion and duplication syndromes
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nphp1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NPHP1 were changed from to Nephronophthisis 1, juvenile, MIM# 256100
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NPHP1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: NPHP1.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NPHP1 was added gene: NPHP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: NPHP1 was set to Unknown