Disorder "Charcot-Marie-Tooth Disease Type 1A"
Found 4 records
Disorder information
Disorder name:
Charcot-Marie-Tooth Disease Type 1A
Disoder ID:
OMIM entry:
Synonyms:
CMT1A,Charcot-Marie-Tooth neuropathy type 1A,HMSN1A,autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A,hereditary motor and sensory neuropathy 1A,microduplication 17p12
Definition:
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
Modifier statisitcs
Record:
4
Gene:
1
Variant:
4
Reference:
1
Effect type:
Expressivity(4)
Modifier effect:
Altered foot dorsiflexion strength(4)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SIPA1L2 | SIPA1L2:c.2244-46T>C | Expressivity | Altered foot dorsiflexion strength | P<1×10(-7) | SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventionsmore | more |
| SIPA1L2:c.2820+1397G>A | Expressivity | Altered foot dorsiflexion strength | P<1×10(-7) | SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventionsmore | more | |
| SIPA1L2:c.3095+4708T>G | Expressivity | Altered foot dorsiflexion strength | P<1×10(-7) | SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventionsmore | more | |
| SIPA1L2:c.3642+443G>T | Expressivity | Altered foot dorsiflexion strength | P<1×10(-7) | SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventionsmore | more |
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