Common deletion and duplication syndromes
Region: ISCA-37405-LossNPHP1 deletion
GRCh38 Position: 110122329-110205017
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 0 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies.
Sources: Expert listCreated: 30 Nov 2020, 7:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Publications
Details
- ISCA ID
- ISCA-37405-Loss
- ISCA Region Name
- NPHP1 deletion
- Chromosome
- 2
- GRCh38 Coordinates
- 110122329-110205017
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 80%
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nephronophthisis 1, juvenile, MIM# 256100
- Joubert syndrome 4, MIM# 609583
- Senior-Loken syndrome 1, MIM# 266900
- Tags
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37405-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37405-loss has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37405-Loss was added Region: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37405-Loss. Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37405-Loss were set to 29146700 Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900 Review for Region: ISCA-37405-Loss was set to GREEN