NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286444.1
Allele description [Variation Report for NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)]
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
- Identifiers:
- MONDO: MONDO:0013154; MedGen: C3150411; Orphanet: 588; Orphanet: 899; OMIM: 613150
Assertion and evidence details
Last Updated: Oct 8, 2022