Non-ketotic Hyperglycinemia(Glycine encephalopathy)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic 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 | AMT/275 | aminomethyltransferase | 3p21.31 | Chr3, NC_000003.12 (49416778..49422473, complement) |
5696 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GLDC/2731 | glycine decarboxylase | 9p24.1 | Chr9, NC_000009.12 (6532467..6645729, complement) |
113263 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GCSH/2653 | glycine cleavage system protein H | 16q23.2 | Chr16, NC_000016.10 (81081945..81096395, complement) |
14451 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | PCDH19/57526 | protocadherin 19 | Xq22.1 | ChrX, NC_000023.11 (100291644..100410273, complement) |
118630 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |