PHGDH Chromosome 1
Phosphoglycerate dehydrogenase
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What This Gene Does
This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
Associated Conditions (15)
PHGDH deficiency
Neu-Laxova syndrome 1
Neurometabolic disorder due to serine deficiency
Inborn genetic diseases
PHGDH-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Cervical cancer
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Lung cancer
Colon adenocarcinoma
Epileptic encephalopathy
Seizure
See cases
Key Variants
RS121907988
Conflicting classifications of pathogenicity
PHGDH deficiency, Neu-Laxova syndrome 1, Neurometabolic disorder due to serine deficiency
Health Risk
RS138515760
Conflicting classifications of pathogenicity
PHGDH deficiency, Inborn genetic diseases, Neu-Laxova syndrome 1
Health Risk
RS139063843
Conflicting classifications of pathogenicity
PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH-related disorder
Health Risk
RS139827025
Conflicting classifications of pathogenicity
PHGDH deficiency, Uterine corpus endometrial carcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS141408688
Conflicting classifications of pathogenicity
PHGDH deficiency, Inborn genetic diseases, PHGDH deficiency
Health Risk
RS144484007
Conflicting classifications of pathogenicity
PHGDH deficiency, PHGDH deficiency
Health Risk
RS147866831
Conflicting classifications of pathogenicity
PHGDH deficiency, Colon adenocarcinoma, PHGDH deficiency
Health Risk
RS148078511
Conflicting classifications of pathogenicity
PHGDH deficiency, PHGDH-related disorder, PHGDH deficiency
Health Risk
RS151275800
Conflicting classifications of pathogenicity
PHGDH deficiency, Inborn genetic diseases, PHGDH deficiency
Health Risk
RS201782441
Conflicting classifications of pathogenicity
PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency
Health Risk
RS267606947
Conflicting classifications of pathogenicity
PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency
Health Risk
RS368681081
Conflicting classifications of pathogenicity
PHGDH deficiency, PHGDH deficiency
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121907988 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Neu-Laxova syndrome 1, Neurometabolic disorder due to serine deficiency |
| RS138515760 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Inborn genetic diseases, Neu-Laxova syndrome 1 |
| RS139063843 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH-related disorder |
| RS139827025 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Uterine corpus endometrial carcinoma, Ovarian serous cystadenocarcinoma |
| RS141408688 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Inborn genetic diseases, PHGDH deficiency |
| RS144484007 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS147866831 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Colon adenocarcinoma, PHGDH deficiency |
| RS148078511 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH-related disorder, PHGDH deficiency |
| RS151275800 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Inborn genetic diseases, PHGDH deficiency |
| RS201782441 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS267606947 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS368681081 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS370255821 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS374303746 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS374994783 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS587731325 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Neu-Laxova syndrome 1, Inborn genetic diseases |
| RS587777483 | Health Risk | Conflicting classifications of pathogenicity | Neu-Laxova syndrome 1, PHGDH deficiency, Neu-Laxova syndrome 1 |
| RS754326499 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS764196357 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS764618040 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Seizure, PHGDH deficiency |
| RS765542839 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS774132406 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, Inborn genetic diseases, PHGDH deficiency |
| RS778430306 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PHGDH deficiency, Neu-Laxova syndrome 1 |
| RS886045205 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS886045206 | Health Risk | Conflicting classifications of pathogenicity | PHGDH deficiency, PHGDH deficiency |
| RS1217925678 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1224279673 | Health Risk | Likely pathogenic | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS1302054606 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS149128100 | Health Risk | Likely pathogenic | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS1553238760 | Health Risk | Likely pathogenic | — |
| RS1651264976 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1651455730 | Health Risk | Likely pathogenic | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS1652276195 | Health Risk | Likely pathogenic | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS2101160151 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS2101195348 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS2101220673 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS2101225889 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS2464034378 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS2464079458 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS758517215 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency, PHGDH deficiency |
| RS775936961 | Health Risk | Likely pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1215699403 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1282624852 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1331155296 | Health Risk | Pathogenic | PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency |
| RS1341545186 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1398758559 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1433746199 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1489498331 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1557978852 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |
| RS1650717188 | Health Risk | Pathogenic | PHGDH deficiency, PHGDH deficiency |