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Limb girdle muscular dystrophy v2.0 Louise Daugherty promoted panel to version 2.0
Limb girdle muscular dystrophy v1.186 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophy v1.185 CRYAB Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI to BOTH due to feedback from Judith Hudson and Chiara Marini Bettolo - We also agree that the mode of inheritance for CRYAB is predominantly monoallelic, though there are rare cases where individuals appear to have two copies of the same pathogenic variant.
Limb girdle muscular dystrophy v1.185 CRYAB Louise Daugherty Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.184 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives. As this is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Classified gene: POMK as Red List (low evidence)
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the overall reviews and comments from reviewers.
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Gene: pomk has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Classified gene: POLG as Red List (low evidence)
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Added comment: Comment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Gene: polg has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Classified gene: ACTA1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Gene: acta1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Classified gene: AGL as Red List (low evidence)
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Gene: agl has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Classified gene: ATP2A1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Gene: atp2a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.; to: Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Classified gene: BVES as Red List (low evidence)
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Gene: bves has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Classified gene: CHRND as Red List (low evidence)
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Gene: chrnd has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Classified gene: CLCN1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Gene: clcn1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Classified gene: COL12A1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Gene: col12a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Classified gene: COLQ as Red List (low evidence)
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Gene: colq has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Classified gene: DNM2 as Red List (low evidence)
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 DUX4 Ellen McDonagh Marked gene: DUX4 as ready
Limb girdle muscular dystrophy v1.173 DUX4 Ellen McDonagh Gene: dux4 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Marked gene: ETFDH as ready
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Classified gene: ETFDH as Red List (low evidence)
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Marked gene: GBE1 as ready
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Classified gene: GBE1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GFPT1 Ellen McDonagh Marked gene: GFPT1 as ready
Limb girdle muscular dystrophy v1.169 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Marked gene: GYG1 as ready
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Classified gene: GYG1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Marked gene: LIMS2 as ready
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Classified gene: LIMS2 as Red List (low evidence)
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on overall consensus of reviews and comments.
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Marked gene: HNRNPDL as ready
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: Removed 'watchlist tag' as this has been made Green.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Tag watchlist was removed from gene: HNRNPDL.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Mode of inheritance for gene: HNRNPDL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Classified gene: HNRNPDL as Green List (high evidence)
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to overall majority of Green reviews and clinical comments from GLH representatives. This gene seems to now be deemed a LGMD causative gene.
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.165 ACADVL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.165 ACADVL Ellen McDonagh Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Classified gene: ACADVL as Green List (high evidence)
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Gene: acadvl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Marked gene: BAG3 as ready
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Mode of inheritance for gene: BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Classified gene: BAG3 as Green List (high evidence)
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Classified gene: CASQ1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to expert review, however only one missense variants seems to have been reported in this gene. Awaiting further clinical input for this to be Green.
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Gene: casq1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Marked gene: CPT2 as ready
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Classified gene: CPT2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Classified gene: CRYAB as Green List (high evidence)
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Gene: cryab has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Marked gene: DAG1 as ready
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Mode of inheritance for gene: DAG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Classified gene: DAG1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Classified gene: DES as Green List (high evidence)
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Gene: des has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Marked gene: DOK7 as ready
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Classified gene: DOK7 as Green List (high evidence)
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Marked gene: DPM3 as ready
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Classified gene: DPM3 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Marked gene: GNE as ready
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Classified gene: GNE as Green List (high evidence)
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives, and more than 3 cases reported.
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Marked gene: ISPD as ready
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Marked gene: LAMA2 as ready
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Mode of inheritance for gene: LAMA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Classified gene: LAMA2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Marked gene: LAMP2 as ready
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Classified gene: LAMP2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Marked gene: LPIN1 as ready
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Mode of inheritance for gene: LPIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Classified gene: LPIN1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Marked gene: MATR3 as ready
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Classified gene: MATR3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Marked gene: MYH14 as ready
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Classified gene: MYH14 as Red List (low evidence)
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.139 MYH7 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'both' to monoallelic due to the publication provided by the reviewers and mode of inheritance provided in OMIM for this phenotype. To confirm with the reviewers.
Limb girdle muscular dystrophy v1.139 MYH7 Ellen McDonagh Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Marked gene: NEB as ready
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Classified gene: NEB as Red List (low evidence)
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Marked gene: ORAI1 as ready
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Classified gene: ORAI1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Marked gene: PFKM as ready
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Mode of inheritance for gene: PFKM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Classified gene: PFKM as Green List (high evidence)
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Classified gene: PGK1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Gene: pgk1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Marked gene: PHKA1 as ready
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Mode of inheritance for gene: PHKA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.130 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.130 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.128 POGLUT1 Ellen McDonagh Publications for gene: POGLUT1 were set to 27807076
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).; to: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date.
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Marked gene: POMGNT2 as ready
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Mode of inheritance for gene: POMGNT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Classified gene: POMGNT2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.123 PYGM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.123 PYGM Ellen McDonagh Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Classified gene: PYGM as Green List (high evidence)
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Gene: pygm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Marked gene: RAPSN as ready
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Classified gene: RAPSN as Red List (low evidence)
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.120 RYR1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.120 RYR1 Ellen McDonagh Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Marked gene: RYR1 as ready
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Classified gene: RYR1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Marked gene: SCN4A as ready
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Classified gene: SCN4A as Red List (low evidence)
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Deleted their comment
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Classified gene: SELENON as Green List (high evidence)
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Gene: selenon has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.113 SMCHD1 Ellen McDonagh Tag digenic tag was added to gene: SMCHD1.
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Marked gene: SMN1 as ready
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Mode of inheritance for gene: SMN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Classified gene: SMN1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Marked gene: STIM1 as ready
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Classified gene: STIM1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Classified gene: STIM1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Gene: stim1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Classified gene: SYNE2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Gene: syne2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.108 TPM3 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TPM2 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Classified gene: TNNT3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Gene: tnnt3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.107 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Green List (high evidence)
Limb girdle muscular dystrophy v1.107 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Added comment: Comment on list classification: Based on expert review from Chiara Marini Bettolo (NUTH), this gene has been promoted from Red to Green.
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.105 TPM2 Ellen McDonagh Classified gene: TPM2 as Red List (low evidence)
Limb girdle muscular dystrophy v1.105 TPM2 Ellen McDonagh Added comment: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophy v1.105 TPM2 Ellen McDonagh Gene: tpm2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.104 TPM3 Ellen McDonagh Classified gene: TPM3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.104 TPM3 Ellen McDonagh Added comment: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophy v1.104 TPM3 Ellen McDonagh Gene: tpm3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.103 TTN Ellen McDonagh Mode of pathogenicity for gene: TTN was changed from to Other
Limb girdle muscular dystrophy v1.102 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Limb girdle muscular dystrophy v1.102 TTN Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall the majority of reviews are Green, and there is a consensus that although classifying variants in this is difficult, additional phenotyping studies can aid in confirmation of diagnosis and that this gene should be included on this panel.
Limb girdle muscular dystrophy v1.102 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.101 VMA21 Ellen McDonagh Classified gene: VMA21 as Green List (high evidence)
Limb girdle muscular dystrophy v1.101 VMA21 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to consensus from reviewers and submitted gene lists from GLHs.
Limb girdle muscular dystrophy v1.101 VMA21 Ellen McDonagh Gene: vma21 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.100 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Limb girdle muscular dystrophy v1.99 DOK7 Louise Daugherty Added comment: Comment on phenotypes: removed Fetal akinesia deformation sequence 1, 208150- the phenotype is related to variants in the gene MUSK not the gene DOK7
Limb girdle muscular dystrophy v1.99 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy to Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.98 POGLUT1 Louise Daugherty Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Limb girdle muscular dystrophy v1.97 SMN1 Chiara Marini Bettolo reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 CASQ1 Chiara Marini Bettolo reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 ORAI1 Chiara Marini Bettolo reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 STIM1 Chiara Marini Bettolo reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 TNPO3 Chiara Marini Bettolo reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 POGLUT1 Chiara Marini Bettolo commented on gene: POGLUT1: new gene added after analysis. Currently provided by HSS for LGMDin Ncl via LGMD panel. Known form of LGMD2Z or LGMDR21
Limb girdle muscular dystrophy v1.97 VMA21 Chiara Marini Bettolo edited their review of gene: VMA21: Added comment: XMEA. Differential diagnosis with LGMD (proximal weakness and raised CK) particularly in milder adult onset forms; Changed rating: GREEN
Limb girdle muscular dystrophy v1.97 TTN Chiara Marini Bettolo commented on gene: TTN: Disese spectrum can be very variable from congenital myopathy, cardiomyopathy, distal weakness, HMERF to LGMD. Known form of LGMD2J or LGMDR10
Limb girdle muscular dystrophy v1.97 TPM3 Chiara Marini Bettolo edited their review of gene: TPM3: Added comment: CAP myopathy, nemaline myopathy, congenital myopathy with fibre type disproportion; Changed rating: RED
Limb girdle muscular dystrophy v1.97 TPM2 Chiara Marini Bettolo reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 TNNT3 Chiara Marini Bettolo edited their review of gene: TNNT3: Added comment: Arthrogryposis (distal); Changed rating: RED
Limb girdle muscular dystrophy v1.97 SYNE2 Chiara Marini Bettolo commented on gene: SYNE2: Form of EDMD. Differential diagnosis with AD LGMD. (proximal weakness and raised CK)
Limb girdle muscular dystrophy v1.97 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: FSHD2, differential diagnosis with LGMD.
Limb girdle muscular dystrophy v1.97 SELENON Chiara Marini Bettolo commented on gene: SELENON: Rigid spine syndrome, but not all patients present with rigid spine. Muscle biopsy can range from myoathic to dystrophic. Differential diagnosis with LGMD.
Limb girdle muscular dystrophy v1.97 SCN4A Chiara Marini Bettolo edited their review of gene: SCN4A: Added comment: muscle channelopathy. ; Changed rating: RED
Limb girdle muscular dystrophy v1.97 RYR1 Chiara Marini Bettolo commented on gene: RYR1: Variable disease spectrum from congenital myopathy, metabolic myopathy, MH. Differential diagnosis with LGMD
Limb girdle muscular dystrophy v1.97 RAPSN Chiara Marini Bettolo edited their review of gene: RAPSN: Added comment: CMS gene.; Changed rating: RED
Limb girdle muscular dystrophy v1.97 PYGM Chiara Marini Bettolo commented on gene: PYGM: McArdle's disease. Differential diagnosis with LGMD
Limb girdle muscular dystrophy v1.97 POMK Chiara Marini Bettolo edited their review of gene: POMK: Added comment: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), autosomal recessive disorder with congenital muscular dystrophy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 POMGNT2 Chiara Marini Bettolo commented on gene: POMGNT2: Known form to muscular dystrophy.according to new classification is LGMDR24
Limb girdle muscular dystrophy v1.97 POLG Chiara Marini Bettolo reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 PHKA1 Chiara Marini Bettolo reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 PGK1 Chiara Marini Bettolo reviewed gene: PGK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 PFKM Chiara Marini Bettolo reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 NEB Chiara Marini Bettolo edited their review of gene: NEB: Added comment: Nemaline myopathy. Variable disease spectrum from severe early onset to milder late onset. Usually CK normal or mildly raised ; Changed rating: RED
Limb girdle muscular dystrophy v1.97 MYH7 Chiara Marini Bettolo commented on gene: MYH7: Scapuloperoneal syndrome. Variable phenotype fromsevere cardiomyopathy, distal myopathy, proximal and distal myopathy and asymptomatic hyperCKemia.
Limb girdle muscular dystrophy v1.97 MYH14 Chiara Marini Bettolo reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 MATR3 Chiara Marini Bettolo edited their review of gene: MATR3: Added comment: Predominantly distal myopathy with vocal cord parlysis and dysphagia. Raised CK; Changed rating: RED
Limb girdle muscular dystrophy v1.97 LPIN1 Chiara Marini Bettolo commented on gene: LPIN1: Recurrent episodes of myoglobinuria and high CK. Differential diagnosis with LGMD.
Limb girdle muscular dystrophy v1.97 LIMS2 Chiara Marini Bettolo edited their review of gene: LIMS2: Added comment: Rare form of muscular dystrophy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 LAMP2 Chiara Marini Bettolo commented on gene: LAMP2: Danon disease. Differential diagnosis with LGMD.
Limb girdle muscular dystrophy v1.97 LAMA2 Chiara Marini Bettolo commented on gene: LAMA2: Form of congenital muscular dystrophy, now listed on new LGMD classification as LGMDR23
Limb girdle muscular dystrophy v1.97 ISPD Chiara Marini Bettolo edited their review of gene: ISPD: Added comment: Known as LGMD 2U or LGMDR20 on new nomenclature; Changed rating: GREEN
Limb girdle muscular dystrophy v1.97 HNRNPDL Chiara Marini Bettolo commented on gene: HNRNPDL: Listed as LGMD D3 on new nomenclature/classification.
Limb girdle muscular dystrophy v1.97 GYG1 Chiara Marini Bettolo reviewed gene: GYG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 GNE Chiara Marini Bettolo commented on gene: GNE: currently provided through LGMD panel at HSS LGMD in Ncl. Proximal and distal weakness, differential diagnosis with LGMD.
Limb girdle muscular dystrophy v1.97 GFPT1 Chiara Marini Bettolo edited their review of gene: GFPT1: Added comment: CMS gene.; Changed rating: RED
Limb girdle muscular dystrophy v1.97 GBE1 Chiara Marini Bettolo reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 ETFDH Chiara Marini Bettolo reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.97 DPM3 Chiara Marini Bettolo edited their review of gene: DPM3: Added comment: MDDGC15. Rare form of muscular dystrophy with high CK; Changed rating: AMBER
Limb girdle muscular dystrophy v1.97 DOK7 Chiara Marini Bettolo commented on gene: DOK7: CMS gene, but clinically can present as LGMD
Limb girdle muscular dystrophy v1.97 DNM2 Chiara Marini Bettolo edited their review of gene: DNM2: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 DES Chiara Marini Bettolo commented on gene: DES: currently provided through LGMD panel at HSS LGMD in Ncl. Form of myofibrillar myopathy that can present with variable phenotypes from distal weakness, scapuloperoneal weakness and cardiomyopathy and arrythmia
Limb girdle muscular dystrophy v1.97 DAG1 Chiara Marini Bettolo commented on gene: DAG1: Known form of LGMD2P or LGMDR16
Limb girdle muscular dystrophy v1.97 CRYAB Chiara Marini Bettolo commented on gene: CRYAB: currently provided through LGMD panel at HSS LGMD in Ncl. Rare form of myofibrillar myopathy
Limb girdle muscular dystrophy v1.97 CPT2 Chiara Marini Bettolo commented on gene: CPT2: metabolic myoapthy, can present with high CK - differential diagnosis with LGMD
Limb girdle muscular dystrophy v1.97 COLQ Chiara Marini Bettolo edited their review of gene: COLQ: Added comment: CMS; Changed rating: RED
Limb girdle muscular dystrophy v1.97 COL12A1 Chiara Marini Bettolo edited their review of gene: COL12A1: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 CLCN1 Chiara Marini Bettolo edited their review of gene: CLCN1: Added comment: muscle channelopathy. Myotonia congenita; Changed rating: RED
Limb girdle muscular dystrophy v1.97 CHRND Chiara Marini Bettolo edited their review of gene: CHRND: Added comment: form of CMS; Changed rating: RED
Limb girdle muscular dystrophy v1.97 BVES Chiara Marini Bettolo edited their review of gene: BVES: Added comment: only reported in one family; Changed rating: RED
Limb girdle muscular dystrophy v1.97 BAG3 Chiara Marini Bettolo commented on gene: BAG3: currently provided through LGMD panel at HSS LGMD in Ncl. Rare and severe form of myopathy with proximal and distal weakness.
Limb girdle muscular dystrophy v1.97 ATP2A1 Chiara Marini Bettolo edited their review of gene: ATP2A1: Added comment: Brody myopathy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 AGL Chiara Marini Bettolo edited their review of gene: AGL: Added comment: metabolic myopathy. Glycongen storage disease IIIa/b; Changed rating: RED
Limb girdle muscular dystrophy v1.97 ACTA1 Chiara Marini Bettolo edited their review of gene: ACTA1: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophy v1.97 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: metabolic myopathy but differential diagnosis with LGMD
Limb girdle muscular dystrophy v1.96 SMN1 Louise Daugherty Source NHS GMS was added to SMN1.
Source Yorkshire and North East GLH was added to SMN1.
Limb girdle muscular dystrophy v1.96 CASQ1 Louise Daugherty Source NHS GMS was added to CASQ1.
Source Yorkshire and North East GLH was added to CASQ1.
Limb girdle muscular dystrophy v1.96 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Source Yorkshire and North East GLH was added to ORAI1.
Limb girdle muscular dystrophy v1.96 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Source Yorkshire and North East GLH was added to STIM1.
Limb girdle muscular dystrophy v1.96 TNPO3 Louise Daugherty Source NHS GMS was added to TNPO3.
Source Yorkshire and North East GLH was added to TNPO3.
Limb girdle muscular dystrophy v1.95 SMN1 Louise Daugherty gene: SMN1 was added
gene: SMN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-4, 271150
Review for gene: SMN1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophy v1.94 CASQ1 Louise Daugherty gene: CASQ1 was added
gene: CASQ1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates, 616231
Review for gene: CASQ1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophy v1.93 ORAI1 Louise Daugherty gene: ORAI1 was added
gene: ORAI1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, 615883
Review for gene: ORAI1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophy v1.92 STIM1 Louise Daugherty gene: STIM1 was added
gene: STIM1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1, 160565
Review for gene: STIM1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophy v1.91 TNPO3 Louise Daugherty gene: TNPO3 was added
gene: TNPO3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Review for gene: TNPO3 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophy v1.90 Louise Daugherty List of related panels changed from to R82
Limb girdle muscular dystrophy v1.87 ISPD Chiara Marini Bettolo commented on gene: ISPD: this gene is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Limb girdle muscular dystrophy v1.87 DES Chiara Marini Bettolo commented on gene: DES: this gene is currently provided as part of our diagnostic service and is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Limb girdle muscular dystrophy v1.87 HNRNPDL Chiara Marini Bettolo commented on gene: HNRNPDL: this gene is now listed on the old and new classification for LGMD (LGMD D3)

https://doi.org/10.1016/j.nmd.2018.05.007
Limb girdle muscular dystrophy v1.87 POLG Louise Daugherty Classified gene: POLG as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.87 POLG Louise Daugherty Added comment: Comment on list classification: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019
Limb girdle muscular dystrophy v1.87 POLG Louise Daugherty Gene: polg has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.86 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Limb girdle muscular dystrophy v1.86 TPM3 Louise Daugherty Source NHS GMS was added to TPM3.
Limb girdle muscular dystrophy v1.86 TPM2 Louise Daugherty Source NHS GMS was added to TPM2.
Limb girdle muscular dystrophy v1.86 TNNT3 Louise Daugherty Source NHS GMS was added to TNNT3.
Limb girdle muscular dystrophy v1.86 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Limb girdle muscular dystrophy v1.86 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Limb girdle muscular dystrophy v1.86 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Limb girdle muscular dystrophy v1.86 RAPSN Louise Daugherty Source NHS GMS was added to RAPSN.
Limb girdle muscular dystrophy v1.86 PYGM Louise Daugherty Source NHS GMS was added to PYGM.
Limb girdle muscular dystrophy v1.86 POLG Louise Daugherty Source NHS GMS was added to POLG.
Limb girdle muscular dystrophy v1.86 POGLUT1 Louise Daugherty Source NHS GMS was added to POGLUT1.
Limb girdle muscular dystrophy v1.86 PHKA1 Louise Daugherty Source NHS GMS was added to PHKA1.
Limb girdle muscular dystrophy v1.86 PGK1 Louise Daugherty Source NHS GMS was added to PGK1.
Limb girdle muscular dystrophy v1.86 PFKM Louise Daugherty Source NHS GMS was added to PFKM.
Limb girdle muscular dystrophy v1.86 NEB Louise Daugherty Source NHS GMS was added to NEB.
Limb girdle muscular dystrophy v1.86 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Limb girdle muscular dystrophy v1.86 MYH14 Louise Daugherty Source NHS GMS was added to MYH14.
Limb girdle muscular dystrophy v1.86 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Limb girdle muscular dystrophy v1.86 MATR3 Louise Daugherty Source NHS GMS was added to MATR3.
Limb girdle muscular dystrophy v1.86 LPIN1 Louise Daugherty Source NHS GMS was added to LPIN1.
Limb girdle muscular dystrophy v1.86 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Limb girdle muscular dystrophy v1.86 LAMA2 Louise Daugherty Source NHS GMS was added to LAMA2.
Limb girdle muscular dystrophy v1.86 GYG1 Louise Daugherty Source NHS GMS was added to GYG1.
Limb girdle muscular dystrophy v1.86 GFPT1 Louise Daugherty Source NHS GMS was added to GFPT1.
Limb girdle muscular dystrophy v1.86 GBE1 Louise Daugherty Source NHS GMS was added to GBE1.
Limb girdle muscular dystrophy v1.86 ETFDH Louise Daugherty Source NHS GMS was added to ETFDH.
Limb girdle muscular dystrophy v1.86 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Limb girdle muscular dystrophy v1.86 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Limb girdle muscular dystrophy v1.86 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Limb girdle muscular dystrophy v1.86 CRYAB Louise Daugherty Source NHS GMS was added to CRYAB.
Limb girdle muscular dystrophy v1.86 CPT2 Louise Daugherty Source NHS GMS was added to CPT2.
Limb girdle muscular dystrophy v1.86 COLQ Louise Daugherty Source NHS GMS was added to COLQ.
Limb girdle muscular dystrophy v1.86 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Limb girdle muscular dystrophy v1.86 CLCN1 Louise Daugherty Source NHS GMS was added to CLCN1.
Limb girdle muscular dystrophy v1.86 CHRND Louise Daugherty Source NHS GMS was added to CHRND.
Limb girdle muscular dystrophy v1.86 BAG3 Louise Daugherty Source NHS GMS was added to BAG3.
Limb girdle muscular dystrophy v1.86 ATP2A1 Louise Daugherty Source NHS GMS was added to ATP2A1.
Limb girdle muscular dystrophy v1.86 ANO5 Louise Daugherty Source NHS GMS was added to ANO5.
Limb girdle muscular dystrophy v1.86 AGL Louise Daugherty Source NHS GMS was added to AGL.
Limb girdle muscular dystrophy v1.86 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Limb girdle muscular dystrophy v1.86 ACADVL Louise Daugherty Source NHS GMS was added to ACADVL.
Limb girdle muscular dystrophy v1.85 VMA21 Louise Daugherty Source Yorkshire and North East GLH was added to VMA21.
Limb girdle muscular dystrophy v1.85 TTN Louise Daugherty Source Yorkshire and North East GLH was added to TTN.
Limb girdle muscular dystrophy v1.85 TPM3 Louise Daugherty Source Yorkshire and North East GLH was added to TPM3.
Limb girdle muscular dystrophy v1.85 TPM2 Louise Daugherty Source Yorkshire and North East GLH was added to TPM2.
Limb girdle muscular dystrophy v1.85 TNNT3 Louise Daugherty Source Yorkshire and North East GLH was added to TNNT3.
Limb girdle muscular dystrophy v1.85 SYNE2 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE2.
Limb girdle muscular dystrophy v1.85 SMCHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SMCHD1.
Limb girdle muscular dystrophy v1.85 SELENON Louise Daugherty Source Yorkshire and North East GLH was added to SELENON.
Limb girdle muscular dystrophy v1.85 SCN4A Louise Daugherty Source Yorkshire and North East GLH was added to SCN4A.
Limb girdle muscular dystrophy v1.85 RYR1 Louise Daugherty Source Yorkshire and North East GLH was added to RYR1.
Limb girdle muscular dystrophy v1.85 RAPSN Louise Daugherty Source Yorkshire and North East GLH was added to RAPSN.
Limb girdle muscular dystrophy v1.85 PYGM Louise Daugherty Source Yorkshire and North East GLH was added to PYGM.
Limb girdle muscular dystrophy v1.85 POMK Louise Daugherty Source Yorkshire and North East GLH was added to POMK.
Limb girdle muscular dystrophy v1.85 POMGNT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT2.
Limb girdle muscular dystrophy v1.85 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Limb girdle muscular dystrophy v1.85 POGLUT1 Louise Daugherty Source Yorkshire and North East GLH was added to POGLUT1.
Limb girdle muscular dystrophy v1.85 PHKA1 Louise Daugherty Source Yorkshire and North East GLH was added to PHKA1.
Limb girdle muscular dystrophy v1.85 PGK1 Louise Daugherty Source Yorkshire and North East GLH was added to PGK1.
Limb girdle muscular dystrophy v1.85 PFKM Louise Daugherty Source Yorkshire and North East GLH was added to PFKM.
Limb girdle muscular dystrophy v1.85 NEB Louise Daugherty Source Yorkshire and North East GLH was added to NEB.
Limb girdle muscular dystrophy v1.85 MYH7 Louise Daugherty Source Yorkshire and North East GLH was added to MYH7.
Limb girdle muscular dystrophy v1.85 MYH14 Louise Daugherty Source Yorkshire and North East GLH was added to MYH14.
Limb girdle muscular dystrophy v1.85 MTM1 Louise Daugherty Source Yorkshire and North East GLH was added to MTM1.
Limb girdle muscular dystrophy v1.85 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Limb girdle muscular dystrophy v1.85 LPIN1 Louise Daugherty Source Yorkshire and North East GLH was added to LPIN1.
Limb girdle muscular dystrophy v1.85 LIMS2 Louise Daugherty Source Yorkshire and North East GLH was added to LIMS2.
Limb girdle muscular dystrophy v1.85 LAMP2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMP2.
Limb girdle muscular dystrophy v1.85 LAMA2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMA2.
Limb girdle muscular dystrophy v1.85 ISPD Louise Daugherty Source Yorkshire and North East GLH was added to ISPD.
Limb girdle muscular dystrophy v1.85 HNRNPDL Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPDL.
Limb girdle muscular dystrophy v1.85 GYG1 Louise Daugherty Source Yorkshire and North East GLH was added to GYG1.
Limb girdle muscular dystrophy v1.85 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Limb girdle muscular dystrophy v1.85 GFPT1 Louise Daugherty Source Yorkshire and North East GLH was added to GFPT1.
Limb girdle muscular dystrophy v1.85 GBE1 Louise Daugherty Source Yorkshire and North East GLH was added to GBE1.
Limb girdle muscular dystrophy v1.85 ETFDH Louise Daugherty Source Yorkshire and North East GLH was added to ETFDH.
Limb girdle muscular dystrophy v1.85 DPM3 Louise Daugherty Source Yorkshire and North East GLH was added to DPM3.
Limb girdle muscular dystrophy v1.85 DOK7 Louise Daugherty Source Yorkshire and North East GLH was added to DOK7.
Limb girdle muscular dystrophy v1.85 DNM2 Louise Daugherty Source Yorkshire and North East GLH was added to DNM2.
Limb girdle muscular dystrophy v1.85 DES Louise Daugherty Source Yorkshire and North East GLH was added to DES.
Limb girdle muscular dystrophy v1.85 DAG1 Louise Daugherty Source Yorkshire and North East GLH was added to DAG1.
Limb girdle muscular dystrophy v1.85 CRYAB Louise Daugherty Source Yorkshire and North East GLH was added to CRYAB.
Limb girdle muscular dystrophy v1.85 CPT2 Louise Daugherty Source Yorkshire and North East GLH was added to CPT2.
Limb girdle muscular dystrophy v1.85 COLQ Louise Daugherty Source Yorkshire and North East GLH was added to COLQ.
Limb girdle muscular dystrophy v1.85 COL12A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL12A1.
Limb girdle muscular dystrophy v1.85 CLCN1 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN1.
Limb girdle muscular dystrophy v1.85 CHRND Louise Daugherty Source Yorkshire and North East GLH was added to CHRND.
Limb girdle muscular dystrophy v1.85 BVES Louise Daugherty Source Yorkshire and North East GLH was added to BVES.
Limb girdle muscular dystrophy v1.85 BAG3 Louise Daugherty Source Yorkshire and North East GLH was added to BAG3.
Limb girdle muscular dystrophy v1.85 ATP2A1 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2A1.
Limb girdle muscular dystrophy v1.85 ANO5 Louise Daugherty Source Yorkshire and North East GLH was added to ANO5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophy v1.85 AGL Louise Daugherty Source Yorkshire and North East GLH was added to AGL.
Limb girdle muscular dystrophy v1.85 ACTA1 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA1.
Limb girdle muscular dystrophy v1.85 ACADVL Louise Daugherty Source Yorkshire and North East GLH was added to ACADVL.
Limb girdle muscular dystrophy v1.84 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, 160500; cardiomyopathy; distal myopathy
Limb girdle muscular dystrophy v1.83 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy; HMERF; arthrogryposis
Limb girdle muscular dystrophy v1.82 LAMA2 Louise Daugherty Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; congenital muscular dystroph
Limb girdle muscular dystrophy v1.81 MATR3 Louise Daugherty Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy
Limb girdle muscular dystrophy v1.80 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophy v1.79 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy
Limb girdle muscular dystrophy v1.78 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM to Nonaka myopathy, 605820; Distal myopathy; Limb girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophy v1.77 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophy v1.76 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.75 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.74 BVES Louise Daugherty Phenotypes for gene: BVES were changed from Muscular dystrophy, limb-girdle, type 2X 616812 to Muscular dystrophy, limb-girdle, type 2X, 616812; limb girdle muscular dystrophy; cardiac arrhythmia
Limb girdle muscular dystrophy v1.73 CHRND Louise Daugherty Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome
Limb girdle muscular dystrophy v1.72 RYR1 Louise Daugherty Phenotypes for gene: RYR1 were changed from Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 to Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000; congenital myopathy; malignant hyperthermia
Limb girdle muscular dystrophy v1.71 POGLUT1 Louise Daugherty Classified gene: POGLUT1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.71 POGLUT1 Louise Daugherty Gene: poglut1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.70 SELENON Louise Daugherty Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome
Limb girdle muscular dystrophy v1.69 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy
Limb girdle muscular dystrophy v1.68 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophy v1.67 SYNE2 Louise Daugherty Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.66 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.65 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophy v1.64 RAPSN Louise Daugherty Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.63 RAPSN Louise Daugherty Publications for gene: RAPSN were set to 18179903
Limb girdle muscular dystrophy v1.62 DNM2 Louise Daugherty Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy
Limb girdle muscular dystrophy v1.61 COLQ Louise Daugherty Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome
Limb girdle muscular dystrophy v1.60 SCN4A Louise Daugherty Phenotypes for gene: SCN4A were changed from Hyperkalemic periodic paralysis, type 2, 170500 to Hyperkalemic periodic paralysis, type 2, 170500; Hyperkalemic periodic paralysis
Limb girdle muscular dystrophy v1.59 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 to Myoglobinuria, acute recurrent, autosomal recessive, 268200; myoglobinuria; exercise induced myopathy
Limb girdle muscular dystrophy v1.58 LPIN1 Louise Daugherty Publications for gene: LPIN1 were set to 18817903
Limb girdle muscular dystrophy v1.57 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 to Myopathy, X-linked, with excessive autophagy, 310440; X-Linked myopathy with excessive autophagy
Limb girdle muscular dystrophy v1.56 DPM3 Louise Daugherty Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy
Limb girdle muscular dystrophy v1.55 COL12A1 Louise Daugherty Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy
Limb girdle muscular dystrophy v1.54 SMCHD1 Louise Daugherty Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy
Limb girdle muscular dystrophy v1.53 CPT2 Louise Daugherty Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649 to CPT II deficiency, infantile, 600649; metabolic myopathy
Limb girdle muscular dystrophy v1.52 GFPT1 Louise Daugherty Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 to Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital myasthenic syndrome
Limb girdle muscular dystrophy v1.51 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis
Limb girdle muscular dystrophy v1.50 TPM3 Louise Daugherty Phenotypes for gene: TPM3 were changed from CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284; Nemaline myopathy; congenital myopathy
Limb girdle muscular dystrophy v1.49 ACADVL Louise Daugherty Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis
Limb girdle muscular dystrophy v1.48 ACADVL Louise Daugherty Publications for gene: ACADVL were set to 7668252; 27246109
Limb girdle muscular dystrophy v1.47 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.46 DOK7 Chiara Marini Bettolo commented on gene: DOK7: overlap phenotype with LGMD
Limb girdle muscular dystrophy v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: overlap phenotype with LGMD
Limb girdle muscular dystrophy v1.46 TPM3 Chiara Marini Bettolo reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy, congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 TNNT3 Chiara Marini Bettolo reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.46 PYGM Chiara Marini Bettolo reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 8316268, 12666117; Phenotypes: McArdle disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 GFPT1 Chiara Marini Bettolo reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 CPT2 Chiara Marini Bettolo reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1528846, 8651281; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: overlap LGMD phenotype
Limb girdle muscular dystrophy v1.46 LIMS2 Chiara Marini Bettolo reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 LAMP2 Chiara Marini Bettolo reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10972294; Phenotypes: Danon disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophy v1.46 COL12A1 Chiara Marini Bettolo reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Bethlem myopathy, Ullrich congenital muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.46 DPM3 Chiara Marini Bettolo reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576565, 28803818; Phenotypes: limb-girdle muscular dystrophy, dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: 1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy, 2) milder childhood onset form with hypoketotic hypoglycaemia, hypotonia with or without hepatic disease and 3) adult-onset form presenting with exercise intolerance, muscle cramps and rhabdomyolisis
Limb girdle muscular dystrophy v1.46 ACADVL Chiara Marini Bettolo edited their review of gene: ACADVL: Changed publications: 7668252, 27246109, 25929793; Changed phenotypes: metabolic myopathy, rhabdomyolsis
Limb girdle muscular dystrophy v1.46 VMA21 Chiara Marini Bettolo edited their review of gene: VMA21: Changed rating: RED
Limb girdle muscular dystrophy v1.46 VMA21 Chiara Marini Bettolo reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315026, 19379691; Phenotypes: X-Linked myopathy with excessive autophagy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.46 LPIN1 Chiara Marini Bettolo reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22481384, 18817903; Phenotypes: myoglobinuria, exercise induced myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 SCN4A Chiara Marini Bettolo reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 COLQ Chiara Marini Bettolo reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 DNM2 Chiara Marini Bettolo reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17932957; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.46 RAPSN Chiara Marini Bettolo reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792100; Phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 DAG1 Chiara Marini Bettolo reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14678799, 21388311, 30055862; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: None
Limb girdle muscular dystrophy v1.46 SYNE2 Chiara Marini Bettolo reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761684, 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 ISPD Chiara Marini Bettolo reviewed gene: ISPD: Rating: ; Mode of pathogenicity: None; Publications: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 POMK Chiara Marini Bettolo reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24925318; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 POMGNT2 Chiara Marini Bettolo reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066570; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 NEB Chiara Marini Bettolo reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359044, 12207937; Phenotypes: congenital myopathy, nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 SELENON Chiara Marini Bettolo reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383, 15122708; Phenotypes: congenital myopathy, muscular dystophy, rigid spine syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 POGLUT1 Chiara Marini Bettolo gene: POGLUT1 was added
gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POGLUT1 were set to 27807076
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Review for gene: POGLUT1 was set to GREEN
Added comment: Sources: Expert list
Limb girdle muscular dystrophy v1.46 RYR1 Chiara Marini Bettolo edited their review of gene: RYR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 CLCN1 Chiara Marini Bettolo reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 CHRND Chiara Marini Bettolo reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11782989; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None
Limb girdle muscular dystrophy v1.46 BVES Chiara Marini Bettolo reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 ATP2A1 Chiara Marini Bettolo reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841193; Phenotypes: Brody myopathy, 9367679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 AGL Chiara Marini Bettolo reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, Glycogen storage disease IIIc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 ACTA1 Chiara Marini Bettolo reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938801; Phenotypes: congenital myopathy, scapuloperoneal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.46 ANO5 Chiara Marini Bettolo reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Limb-girdle muscular dystrophy 2L; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 ACADVL Chiara Marini Bettolo reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7668252, 27246109; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 RYR1 Chiara Marini Bettolo reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220422, 8220423; Phenotypes: congenital myopathy, Central core disease, malignant hyperthermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 MYH7 Chiara Marini Bettolo reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322983; Phenotypes: Laing distal myopathy, cardiomyopathy, distal myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 SMCHD1 Chiara Marini Bettolo reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Limb girdle muscular dystrophy v1.46 TTN Chiara Marini Bettolo reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Limb-girdle muscular dystrophy, distal myopathy, HMERF, dilated cardiomyopathy, arthrogryposis, myofibrillar myopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 LAMA2 Chiara Marini Bettolo reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550355, 12552556; Phenotypes: congenital muscular dystrophy, merosin deficient or partially deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 MATR3 Chiara Marini Bettolo reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878; Phenotypes: ALS, myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 DES Chiara Marini Bettolo reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 11073539, 19433360, 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 HNRNPDL Chiara Marini Bettolo reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055862, 24647604, 15367920; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.46 CRYAB Chiara Marini Bettolo reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11577372; Phenotypes: myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 BAG3 Chiara Marini Bettolo reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 GNE Chiara Marini Bettolo reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883483; Phenotypes: Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophy v1.46 DOK7 Chiara Marini Bettolo edited their review of gene: DOK7: Changed phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy
Limb girdle muscular dystrophy v1.46 DOK7 Chiara Marini Bettolo reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 SYNE2 Louise Daugherty reviewed gene: SYNE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 SMCHD1 Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 LIMS2 Louise Daugherty reviewed gene: LIMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Limb girdle muscular dystrophy v1.46 HNRNPDL Louise Daugherty reviewed gene: HNRNPDL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 DUX4 Louise Daugherty reviewed gene: DUX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.46 BVES Louise Daugherty reviewed gene: BVES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.45 HNRNPDL Louise Daugherty Phenotypes for gene: HNRNPDL were changed from Muscular dystrophy, limb-girdle, type 1G 609115 to Muscular dystrophy, limb-girdle, type 1G 609115; Limb girdle muscular dystrophy
Limb girdle muscular dystrophy v1.44 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophy v1.43 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophy v1.42 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604
Limb girdle muscular dystrophy v1.41 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophy v1.40 DES Louise Daugherty Mode of pathogenicity for gene: DES was changed from to Other
Limb girdle muscular dystrophy v1.39 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980
Limb girdle muscular dystrophy v1.38 DES Louise Daugherty Phenotypes for gene: DES were changed from Muscular dystrophy, limb-girdle, type 2R 615325 to Muscular dystrophy, limb-girdle, type 2R, 615325; myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy
Limb girdle muscular dystrophy v1.37 DES Louise Daugherty Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598
Limb girdle muscular dystrophy v1.36 DES Louise Daugherty Publications for gene: DES were set to 23687351
Limb girdle muscular dystrophy v1.35 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Limb girdle muscular dystrophy v1.34 GNE Louise Daugherty Publications for gene: GNE were set to
Limb girdle muscular dystrophy v1.33 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Limb girdle muscular dystrophy v1.32 ISPD Louise Daugherty Publications for gene: ISPD were set to 23390185
Limb girdle muscular dystrophy v1.31 LIMS2 Louise Daugherty Phenotypes for gene: LIMS2 were changed from Muscular dystrophy, limb-girdle, type 2W 616827 to Muscular dystrophy, limb-girdle, type 2W, 616827; limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Limb girdle muscular dystrophy v1.30 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy
Limb girdle muscular dystrophy v1.29 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy
Limb girdle muscular dystrophy v1.28 POMK Louise Daugherty Publications for gene: POMK were set to 24925318; 24556084
Limb girdle muscular dystrophy v1.27 SYNE2 Louise Daugherty Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy
Limb girdle muscular dystrophy v1.26 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophy v1.25 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684
Limb girdle muscular dystrophy v1.24 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J 608807 to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy
Limb girdle muscular dystrophy v1.23 TTN Louise Daugherty Publications for gene: TTN were set to 26392295; 12145747
Limb girdle muscular dystrophy v1.22 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: 12145747; Phenotypes: Muscular dystrophy, limb-girdle, type 2J, 608807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 SYNE2 Natalie Forrester reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.22 SMCHD1 Natalie Forrester reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Mode of inheritance: Other - please specifiy in evaluation comments
Limb girdle muscular dystrophy v1.22 POMK Natalie Forrester reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: 24925318, 29910097; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 POMGNT2 Natalie Forrester reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 LIMS2 Natalie Forrester reviewed gene: LIMS2: Rating: RED; Mode of pathogenicity: ; Publications: 25589244; Phenotypes: Muscular dystrophy, limb-girdle, type 2W, 616827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 ISPD Natalie Forrester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 23390185, 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 HNRNPDL Natalie Forrester reviewed gene: HNRNPDL: Rating: RED; Mode of pathogenicity: ; Publications: 24647604; Phenotypes: Muscular dystrophy, limb-girdle, type 1G, 609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.22 GNE Natalie Forrester reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: 22883483; Phenotypes: Nonaka myopathy, 605820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 DUX4 Natalie Forrester reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Facioscapulohumeral muscular dystrophy, 158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.22 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: 23687351; Phenotypes: Muscular dystrophy, limb-girdle, type 2R, 615325; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 DAG1 Natalie Forrester reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25503980, 29036200, 21388311; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.22 BVES Natalie Forrester reviewed gene: BVES: Rating: RED; Mode of pathogenicity: ; Publications: 26642364; Phenotypes: Muscular dystrophy, limb-girdle, type 2X, 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.21 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb girdle muscular dystrophy v1.20 TTN Louise Daugherty Source NHS GMS was added to TTN.
Limb girdle muscular dystrophy v1.20 SYNE2 Louise Daugherty Source NHS GMS was added to SYNE2.
Limb girdle muscular dystrophy v1.20 SMCHD1 Louise Daugherty Source NHS GMS was added to SMCHD1.
Limb girdle muscular dystrophy v1.20 POMK Louise Daugherty Source NHS GMS was added to POMK.
Limb girdle muscular dystrophy v1.20 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Limb girdle muscular dystrophy v1.20 LIMS2 Louise Daugherty Source NHS GMS was added to LIMS2.
Limb girdle muscular dystrophy v1.20 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Limb girdle muscular dystrophy v1.20 HNRNPDL Louise Daugherty Source NHS GMS was added to HNRNPDL.
Limb girdle muscular dystrophy v1.20 GNE Louise Daugherty Source NHS GMS was added to GNE.
Limb girdle muscular dystrophy v1.20 DUX4 Louise Daugherty Source NHS GMS was added to DUX4.
Limb girdle muscular dystrophy v1.20 DES Louise Daugherty Source NHS GMS was added to DES.
Limb girdle muscular dystrophy v1.20 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Limb girdle muscular dystrophy v1.20 BVES Louise Daugherty Source NHS GMS was added to BVES.
Limb girdle muscular dystrophy v1.19 TTN Louise Daugherty Source South West GLH was added to TTN.
Limb girdle muscular dystrophy v1.19 SYNE2 Louise Daugherty Source South West GLH was added to SYNE2.
Limb girdle muscular dystrophy v1.19 SMCHD1 Louise Daugherty Source South West GLH was added to SMCHD1.
Limb girdle muscular dystrophy v1.19 POMK Louise Daugherty Source South West GLH was added to POMK.
Limb girdle muscular dystrophy v1.19 POMGNT2 Louise Daugherty Source South West GLH was added to POMGNT2.
Limb girdle muscular dystrophy v1.19 LIMS2 Louise Daugherty Source South West GLH was added to LIMS2.
Limb girdle muscular dystrophy v1.19 ISPD Louise Daugherty Source South West GLH was added to ISPD.
Limb girdle muscular dystrophy v1.19 HNRNPDL Louise Daugherty Source South West GLH was added to HNRNPDL.
Limb girdle muscular dystrophy v1.19 GNE Louise Daugherty Source South West GLH was added to GNE.
Limb girdle muscular dystrophy v1.19 DUX4 Louise Daugherty Source South West GLH was added to DUX4.
Limb girdle muscular dystrophy v1.19 DES Louise Daugherty Source South West GLH was added to DES.
Limb girdle muscular dystrophy v1.19 DAG1 Louise Daugherty Source South West GLH was added to DAG1.
Limb girdle muscular dystrophy v1.19 BVES Louise Daugherty Source South West GLH was added to BVES.
Limb girdle muscular dystrophy v1.18 VMA21 Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Publications for gene VMA21 were changed from to 23315026; 19379691
Limb girdle muscular dystrophy v1.18 TPM3 Louise Daugherty Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 for gene: TPM3
Publications for gene TPM3 were changed from to 7704029; 10619715
Limb girdle muscular dystrophy v1.18 TPM2 Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 for gene: TPM2
Publications for gene TPM2 were changed from to 7977374; 12592607
Limb girdle muscular dystrophy v1.18 TNNT3 Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3
Publications for gene TNNT3 were changed from to 12865991; 12592607
Limb girdle muscular dystrophy v1.18 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Publications for gene SELENON were changed from to 15122708; 11528383
Limb girdle muscular dystrophy v1.18 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500 for gene: SCN4A
Publications for gene SCN4A were changed from to 1651050; 1659948
Limb girdle muscular dystrophy v1.18 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 8220422; 8220423
Limb girdle muscular dystrophy v1.18 RAPSN Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: RAPSN
Publications for gene RAPSN were changed from to 18179903
Limb girdle muscular dystrophy v1.18 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes McArdle disease, 232600 for gene: PYGM
Publications for gene PYGM were changed from to 8316268; 12666117
Limb girdle muscular dystrophy v1.18 POLG Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG
Publications for gene POLG were changed from to 15122711
Limb girdle muscular dystrophy v1.18 PHKA1 Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Publications for gene PHKA1 were changed from to 2252364; 7874115
Limb girdle muscular dystrophy v1.18 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Publications for gene PGK1 were changed from to 6933565
Limb girdle muscular dystrophy v1.18 PFKM Louise Daugherty Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
Publications for gene PFKM were changed from to 7603526
Limb girdle muscular dystrophy v1.18 NEB Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Publications for gene NEB were changed from to 9359044; 12207937
Limb girdle muscular dystrophy v1.18 MYH7 Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Laing distal myopathy, 160500 for gene: MYH7
Publications for gene MYH7 were changed from to 15322983
Limb girdle muscular dystrophy v1.18 MYH14 Louise Daugherty Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14
Publications for gene MYH14 were changed from to 21480433
Limb girdle muscular dystrophy v1.18 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787
Limb girdle muscular dystrophy v1.18 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Publications for gene MATR3 were changed from to 19344878
Limb girdle muscular dystrophy v1.18 LPIN1 Louise Daugherty Mode of inheritance for gene LPIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Publications for gene LPIN1 were changed from to 18817903
Limb girdle muscular dystrophy v1.18 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Danon disease, 300257 for gene: LAMP2
Publications for gene LAMP2 were changed from to 10972294
Limb girdle muscular dystrophy v1.18 LAMA2 Louise Daugherty Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Publications for gene LAMA2 were changed from to 12552556; 7550355
Limb girdle muscular dystrophy v1.18 GYG1 Louise Daugherty Mode of inheritance for gene GYG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease XV, 613507 for gene: GYG1
Publications for gene GYG1 were changed from to 20357282
Limb girdle muscular dystrophy v1.18 GFPT1 Louise Daugherty Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
Publications for gene GFPT1 were changed from to 21310273
Limb girdle muscular dystrophy v1.18 GBE1 Louise Daugherty Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1
Publications for gene GBE1 were changed from to 8613547
Limb girdle muscular dystrophy v1.18 ETFDH Louise Daugherty Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680 for gene: ETFDH
Publications for gene ETFDH were changed from to 17412732
Limb girdle muscular dystrophy v1.18 DPM3 Louise Daugherty Mode of inheritance for gene DPM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Publications for gene DPM3 were changed from to 28803818; 19576565
Limb girdle muscular dystrophy v1.18 DOK7 Louise Daugherty Mode of inheritance for gene DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: DOK7
Publications for gene DOK7 were changed from to 19261599
Limb girdle muscular dystrophy v1.18 DNM2 Louise Daugherty Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2
Publications for gene DNM2 were changed from to 17932957
Limb girdle muscular dystrophy v1.18 CRYAB Louise Daugherty Mode of inheritance for gene CRYAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cataract 16, multiple types, 613763 for gene: CRYAB
Publications for gene CRYAB were changed from to 11577372
Limb girdle muscular dystrophy v1.18 CPT2 Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CPT II deficiency, infantile, 600649 for gene: CPT2
Publications for gene CPT2 were changed from to 1528846; 8651281
Limb girdle muscular dystrophy v1.18 COLQ Louise Daugherty Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
Publications for gene COLQ were changed from to 9689136
Limb girdle muscular dystrophy v1.18 COL12A1 Louise Daugherty Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1
Publications for gene COL12A1 were changed from to 24334604
Limb girdle muscular dystrophy v1.18 CLCN1 Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1
Publications for gene CLCN1 were changed from to 8112288; 7981750
Limb girdle muscular dystrophy v1.18 CHRND Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND
Publications for gene CHRND were changed from to 11782989
Limb girdle muscular dystrophy v1.18 BAG3 Louise Daugherty Mode of inheritance for gene BAG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Publications for gene BAG3 were changed from to 19085932; 20605452
Limb girdle muscular dystrophy v1.18 ATP2A1 Louise Daugherty Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Publications for gene ATP2A1 were changed from to 8841193; 9367679
Limb girdle muscular dystrophy v1.18 AGL Louise Daugherty Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400 for gene: AGL
Publications for gene AGL were changed from to 8755644; 8990006
Limb girdle muscular dystrophy v1.18 ACTA1 Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1
Publications for gene ACTA1 were changed from to 25938801
Limb girdle muscular dystrophy v1.18 ACADVL Louise Daugherty Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes VLCAD deficiency, 201475 for gene: ACADVL
Publications for gene ACADVL were changed from to 7668252; 27246109
Limb girdle muscular dystrophy v1.17 SELENON Louise Daugherty commented on gene: SELENON
Limb girdle muscular dystrophy v1.17 VMA21 Ana Topf reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026, 19379691; Phenotypes: Myopathy, X-linked, with excessive autophagy, 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.17 TPM3 Ana Topf reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy 1, autosomal dominant or recessive, 609284, CAP myopathy 1, 609284; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 TPM2 Ana Topf reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 7977374; Phenotypes: Arthrogryposis multiplex congenita, distal, type 1, 108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 TNNT3 Ana Topf reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis, distal, type 2B, 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 SELENON Ana Topf reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383, 15122708; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 SCN4A Ana Topf reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis, type 2, 170500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 RYR1 Ana Topf reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8220422, 8220423; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Central core disease, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 RAPSN Ana Topf reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179903; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 PYGM Ana Topf reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8316268, 12666117; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 POLG Ana Topf reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122711; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 PHKA1 Ana Topf reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7874115, 2252364; Phenotypes: Muscle glycogenosis, 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.17 PGK1 Ana Topf reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 6933565; Phenotypes: Phosphoglycerate kinase 1 deficiency, 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.17 PFKM Ana Topf reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7603526; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 NEB Ana Topf reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9359044, 12207937; Phenotypes: Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 MYH7 Ana Topf reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322983; Phenotypes: Laing distal myopathy, 160500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 MYH14 Ana Topf reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: ; Publications: 21480433; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 MTM1 Ana Topf edited their review of gene: MTM1: Changed publications: 9305655, 9285787; Changed phenotypes: Myotubular myopathy, X-linked, 310400; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.17 MATR3 Ana Topf reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19344878; Phenotypes: Amyotrophic lateral sclerosis 21, 606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 LPIN1 Ana Topf reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18817903; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 LAMP2 Ana Topf reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10972294; Phenotypes: Danon disease, 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophy v1.17 LAMA2 Ana Topf reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550355, 12552556; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 GYG1 Ana Topf reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20357282; Phenotypes: Glycogen storage disease XV, 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 GFPT1 Ana Topf reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21310273; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 GBE1 Ana Topf reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8613547; Phenotypes: Glycogen storage disease IV, 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 ETFDH Ana Topf reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732; Phenotypes: Glutaric acidemia IIC, 231680, Glutaric acidemia IIA, 231680, Glutaric acidemia IIB, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 DPM3 Ana Topf reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 28803818; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 DOK7 Ana Topf reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19261599; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 DNM2 Ana Topf reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17932957; Phenotypes: Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 CRYAB Ana Topf reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 11577372; Phenotypes: Cataract 16, multiple types, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 CPT2 Ana Topf reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 1528846, 8651281; Phenotypes: CPT II deficiency, infantile, 600649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 COLQ Ana Topf reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 9689136; Phenotypes: Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 COL12A1 Ana Topf reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2, 616470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 CLCN1 Ana Topf reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita, dominant, 160800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 CHRND Ana Topf reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: 11782989; Phenotypes: Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 BAG3 Ana Topf reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 ATP2A1 Ana Topf reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8841193, 9367679; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 AGL Ana Topf reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIc, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.17 ACTA1 Ana Topf reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938801; Phenotypes: Myopathy, scapulohumeroperoneal, 616852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.17 ACADVL Ana Topf reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 7668252, 27246109; Phenotypes: VLCAD deficiency, 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.16 VMA21 Louise Daugherty gene: VMA21 was added
gene: VMA21 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: VMA21 was set to
Limb girdle muscular dystrophy v1.16 TPM3 Louise Daugherty gene: TPM3 was added
gene: TPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM3 was set to
Limb girdle muscular dystrophy v1.16 TPM2 Louise Daugherty gene: TPM2 was added
gene: TPM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM2 was set to
Limb girdle muscular dystrophy v1.16 TNNT3 Louise Daugherty gene: TNNT3 was added
gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TNNT3 was set to
Limb girdle muscular dystrophy v1.16 SELENON Louise Daugherty gene: SELENON was added
gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SELENON was set to
Limb girdle muscular dystrophy v1.16 SCN4A Louise Daugherty gene: SCN4A was added
gene: SCN4A was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SCN4A was set to
Limb girdle muscular dystrophy v1.16 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RYR1 was set to
Limb girdle muscular dystrophy v1.16 RAPSN Louise Daugherty gene: RAPSN was added
gene: RAPSN was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RAPSN was set to
Limb girdle muscular dystrophy v1.16 PYGM Louise Daugherty gene: PYGM was added
gene: PYGM was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PYGM was set to
Limb girdle muscular dystrophy v1.16 POLG Louise Daugherty gene: POLG was added
gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: POLG was set to
Limb girdle muscular dystrophy v1.16 PHKA1 Louise Daugherty gene: PHKA1 was added
gene: PHKA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PHKA1 was set to
Limb girdle muscular dystrophy v1.16 PGK1 Louise Daugherty gene: PGK1 was added
gene: PGK1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PGK1 was set to
Limb girdle muscular dystrophy v1.16 PFKM Louise Daugherty gene: PFKM was added
gene: PFKM was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PFKM was set to
Limb girdle muscular dystrophy v1.16 NEB Louise Daugherty gene: NEB was added
gene: NEB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: NEB was set to
Limb girdle muscular dystrophy v1.16 MYH7 Louise Daugherty gene: MYH7 was added
gene: MYH7 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH7 was set to
Limb girdle muscular dystrophy v1.16 MYH14 Louise Daugherty gene: MYH14 was added
gene: MYH14 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH14 was set to
Limb girdle muscular dystrophy v1.16 MTM1 Louise Daugherty Source Expert Review was added to MTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophy v1.16 MATR3 Louise Daugherty gene: MATR3 was added
gene: MATR3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MATR3 was set to
Limb girdle muscular dystrophy v1.16 LPIN1 Louise Daugherty gene: LPIN1 was added
gene: LPIN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LPIN1 was set to
Limb girdle muscular dystrophy v1.16 LAMP2 Louise Daugherty gene: LAMP2 was added
gene: LAMP2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMP2 was set to
Limb girdle muscular dystrophy v1.16 LAMA2 Louise Daugherty gene: LAMA2 was added
gene: LAMA2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMA2 was set to
Limb girdle muscular dystrophy v1.16 GYG1 Louise Daugherty gene: GYG1 was added
gene: GYG1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GYG1 was set to
Limb girdle muscular dystrophy v1.16 GFPT1 Louise Daugherty gene: GFPT1 was added
gene: GFPT1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GFPT1 was set to
Limb girdle muscular dystrophy v1.16 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GBE1 was set to
Limb girdle muscular dystrophy v1.16 ETFDH Louise Daugherty gene: ETFDH was added
gene: ETFDH was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ETFDH was set to
Limb girdle muscular dystrophy v1.16 DPM3 Louise Daugherty gene: DPM3 was added
gene: DPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DPM3 was set to
Limb girdle muscular dystrophy v1.16 DOK7 Louise Daugherty gene: DOK7 was added
gene: DOK7 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DOK7 was set to
Limb girdle muscular dystrophy v1.16 DNM2 Louise Daugherty gene: DNM2 was added
gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DNM2 was set to
Limb girdle muscular dystrophy v1.16 CRYAB Louise Daugherty gene: CRYAB was added
gene: CRYAB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CRYAB was set to
Limb girdle muscular dystrophy v1.16 CPT2 Louise Daugherty gene: CPT2 was added
gene: CPT2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CPT2 was set to
Limb girdle muscular dystrophy v1.16 COLQ Louise Daugherty gene: COLQ was added
gene: COLQ was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COLQ was set to
Limb girdle muscular dystrophy v1.16 COL12A1 Louise Daugherty gene: COL12A1 was added
gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COL12A1 was set to
Limb girdle muscular dystrophy v1.16 CLCN1 Louise Daugherty gene: CLCN1 was added
gene: CLCN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CLCN1 was set to
Limb girdle muscular dystrophy v1.16 CHRND Louise Daugherty gene: CHRND was added
gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CHRND was set to
Limb girdle muscular dystrophy v1.16 BAG3 Louise Daugherty gene: BAG3 was added
gene: BAG3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: BAG3 was set to
Limb girdle muscular dystrophy v1.16 ATP2A1 Louise Daugherty gene: ATP2A1 was added
gene: ATP2A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ATP2A1 was set to
Limb girdle muscular dystrophy v1.16 AGL Louise Daugherty gene: AGL was added
gene: AGL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: AGL was set to
Limb girdle muscular dystrophy v1.16 ACTA1 Louise Daugherty gene: ACTA1 was added
gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACTA1 was set to
Limb girdle muscular dystrophy v1.16 ACADVL Louise Daugherty gene: ACADVL was added
gene: ACADVL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACADVL was set to
Limb girdle muscular dystrophy v1.15 SMCHD1 Elizabeth Harris reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Limb girdle muscular dystrophy v1.15 POMK Elizabeth Harris reviewed gene: POMK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 24925318; Phenotypes: limb girdle musuclar dystorphy, congenital muscular dystrophy; Mode of inheritance: None
Limb girdle muscular dystrophy v1.15 POMGNT2 Elizabeth Harris reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27066570; Phenotypes: limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.15 LIMS2 Elizabeth Harris reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.15 ISPD Elizabeth Harris reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophy v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophy v1.15 BVES Elizabeth Harris commented on gene: BVES: initially given and LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.
Limb girdle muscular dystrophy v1.15 HNRNPDL Elizabeth Harris commented on gene: HNRNPDL: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris commented on gene: TTN: Currently only recurrent HMERF associated mutations are reported by this lab but truncating variants are also of great clinical interest. Difficulty classifying variants in titin should not be a reason not to include this gene as additional phenotyping studies such as muscle MRI, biopsy review and protein analysis is often extremely helpful in confirming or refuting the diagnosis.
Limb girdle muscular dystrophy v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Limb girdle muscular dystrophy v1.15 DES Elizabeth Harris commented on gene: DES: Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this list
Limb girdle muscular dystrophy v1.15 DAG1 Elizabeth Harris commented on gene: DAG1: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophy v1.15 DAG1 Elizabeth Harris reviewed gene: DAG1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 14678799, PMID: 21388311; Phenotypes: Limb girdle muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophy v1.15 BVES Elizabeth Harris reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.15 DES Elizabeth Harris commented on gene: DES: Phenotypic overlap warrants inclusion in this panel
Limb girdle muscular dystrophy v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: phenotypic overlap with LGMDs warrants inclusion in this panel
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris commented on gene: TTN: Loss of function variants are simpler to classify but missense variants are also reported as pathogenic. The analysis of titin variants is more complex than this proforma allows for
Limb girdle muscular dystrophy v1.15 DES Elizabeth Harris reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11073539, PMID: 19433360, PMID: 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophy v1.15 HNRNPDL Elizabeth Harris reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24647604, PMID: 15367920; Phenotypes: Limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed rating: GREEN
Limb girdle muscular dystrophy v1.15 GNE Elizabeth Harris reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22883483, PMID: 24695763; Phenotypes: Distal myopathy, Limg girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophy v1.15 SYNE2 Elizabeth Harris reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17761684, PMID: 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25772186, PMID: 26392295, PMID: 26581302, PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris Deleted their review
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed publications: PMID: 28716623, PMID: 26381502, PMID: 25772186; Changed phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy, distal myopathy
Limb girdle muscular dystrophy v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Classified gene: MTM1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Gene: mtm1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.14 MTM1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Limb girdle muscular dystrophy v1.14 MTM1 Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400
Limb girdle muscular dystrophy v1.13 MTM1 Ana Topf gene: MTM1 was added
gene: MTM1 was added to Limb girdle muscular dystrophy. Sources: Literature,Expert list
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MTM1 were set to 8640223; 9285787; 9305655; 10790201; 10502779
Phenotypes for gene: MTM1 were set to 310400
Penetrance for gene: MTM1 were set to Incomplete
Review for gene: MTM1 was set to GREEN
gene: MTM1 was marked as current diagnostic
Added comment: Sources: Literature, Expert list
Limb girdle muscular dystrophy v1.13 ISPD Louise Daugherty commented on gene: ISPD
Limb girdle muscular dystrophy v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Limb girdle muscular dystrophy v1.12 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Limb girdle muscular dystrophy v1.11 HNRNPDL Ellen McDonagh Tag watchlist tag was added to gene: HNRNPDL.
Limb girdle muscular dystrophy v1.11 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: When the gene is knocked down in zebrafish it causes a myopathic phenotype (same study). No new cases have been reported in the literature since this publication in 2014.
Limb girdle muscular dystrophy HNRNPDL Ellen McDonagh classified HNRNPDL as Amber List (moderate evidence)
Limb girdle muscular dystrophy HNRNPDL Ellen McDonagh Added gene to panel
Limb girdle muscular dystrophy DMD Ellen McDonagh commented on DMD
Limb girdle muscular dystrophy TRAPPC11 Rebecca Foulger classified TRAPPC11 as green
Limb girdle muscular dystrophy TRAPPC11 Rebecca Foulger commented on TRAPPC11
Limb girdle muscular dystrophy DUX4 Arianna Tucci added DUX4 to panel
Limb girdle muscular dystrophy DUX4 Arianna Tucci reviewed DUX4