NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472425.2
Allele description [Variation Report for NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)]
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
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
-
GSE120396[ACCN] AND gsm[ETYP] (88)
GEO DataSets
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Last Updated: Sep 29, 2024