CRPPA
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CRPPA (HGNC:37276) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CDP-L-ribitol pyrophosphorylase A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ISPD
Alias symbols
hCG_1745121, IspD, Nip
%HI
58.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.46(Read more about gnomAD LOEUF score)
Cytoband
7p21.2
Genomic Coordinates
GRCh37/hg19: chr7:16127150-16461163 NCBI Ensembl UCSC
GRCh38/hg38: chr7:16087525-16421538 NCBI Ensembl UCSC
MANE Select Transcript
NM_001101426.4 ENST00000407010.7 (Read more about MANE Select)
Function
Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O- mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N- acetylglucosamine-beta-4-(phosphate-6-)mannose), a carb... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9073
ClinGen Curation ID:
CCID:006936
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • muscular dystrophy-dystroglycanopathy Monarch
HI Evidence Comments:
Biallelic variants in the CRPPA gene have been associated with the diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 and Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, muscular dystrophy-dystroglycanopathy MONDO:0018276, has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)