INPP4A Chromosome 2
Inositol polyphosphate-4-phosphatase type I A
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What This Gene Does
This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000040933
Associated Conditions (11)
Dyskeratosis congenita
autosomal dominant 1
Pectus excavatum
Nystagmus
Hypotonia
visual disturbance
Microcephaly
NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT
QUADRIPARESIS
AND POOR OR ABSENT SPEECH
Intellectual disability
Key Variants
RS1306444586
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1574965220
Likely pathogenic
Pectus excavatum, Nystagmus, Hypotonia
Health Risk
RS1574887674
Pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS267599505
Pathogenic
NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT, QUADRIPARESIS, AND POOR OR ABSENT SPEECH
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1306444586 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1574965220 | Health Risk | Likely pathogenic | Pectus excavatum, Nystagmus, Hypotonia |
| RS1574887674 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS267599505 | Health Risk | Pathogenic | NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT, QUADRIPARESIS, AND POOR OR ABSENT SPEECH |