Hereditary Neuropathy_CMT - isolated
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort
Note mono allelic variants in this gene cause a range of phenotypes.Created: 28 May 2021, 9:42 a.m. | Last Modified: 28 May 2021, 9:42 a.m.
Panel Version: 0.190
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Arrhythmogenic Cardiomyopathy
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Monogenic Diabetes
- Incidentalome_PREGEN_DRAFT
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Transplant Co-Morbidity Superpanel
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Dilated Cardiomyopathy
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LMNA were changed from Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LMNA were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LMNA was added gene: LMNA was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN