Glycogen Storage Disease IXb(Phosphorylase kinase deficiency of liver and muscle, autosomal recessive)
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PHKB/5257 | phosphorylase kinase regulatory subunit beta | 16q12.1 | Chr16, NC_000016.10 (47461299..47701523) |
240225 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities