NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) AND Neuronopathy, distal hereditary motor, autosomal recessive 4
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000272467.14
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)]
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, autosomal recessive 4
- Synonyms:
- Distal spinal muscular atrophy, autosomal recessive 4; Autosomal recessive lower motor neuron disease with childhood onset; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
- Identifiers:
- MONDO: MONDO:0012608; MedGen: C1970211; Orphanet: 206580; OMIM: 611067
-
PNPLA4 [Strigops habroptila]
PNPLA4 [Strigops habroptila]Gene ID:115604045Gene
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Last Updated: Oct 13, 2024