Common deletion and duplication syndromes
Region: ISCA-37436-GainCharcot-Marie-Tooth disease type 1A
GRCh38 Position: 14194598-15567587
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain
1 review
Elena Savva (Victorian Clinical Genetics Services)
It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases
Sources: Expert listCreated: 1 Dec 2020, 9:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease type 1A
Publications
- PMID: 32648354
Details
- ISCA ID
- ISCA-37436-Gain
- ISCA Region Name
- Charcot-Marie-Tooth disease type 1A
- Chromosome
- 17
- GRCh38 Coordinates
- 14194598-15567587
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Charcot-Marie-Tooth disease type 1A, MIM#118220
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
-
- PMID: 32648354
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37436-gain has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37436-gain has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to PMID: 32648354 Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A Review for Region: ISCA-37436-Gain was set to GREEN