Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Congenital muscular dystrophy v7.26 MCOLN1 Eleanor Williams changed review comment from: Comment on list classification: Assigned red rating as the phenotype is suggestive of a muscle myopathy and is not confirmed dystrophy.

In addition, as this is a syndromic condition, with intellectual disability and ophthalmologic abnormalities being the most consistently reported phenotypes, with myopathy being less consistently reported secondary feature, it is more appropriate for this gene to be tested through the Paediatric disorders superpanel as per National Genomic Test Directory recommendations (TD v9). The gene is already green on both the Intellectual disability and Likely inborn error of metabolism panels which are components of the the Paediatric disorders superpanel. The gene is also green on the Lysosomal storage disorder panel. ; to: Comment on list classification: Assigned red rating as the phenotype is suggestive of a muscle myopathy and is not confirmed dystrophy.

In addition, as this is a syndromic condition, with intellectual disability and ophthalmologic abnormalities being the most consistently reported phenotypes, with myopathy/dystrophy being a less consistently reported secondary feature, it is more appropriate for this gene to be tested through the Paediatric disorders superpanel as per National Genomic Test Directory recommendations (TD v9). The gene is already green on both the Intellectual disability and Likely inborn error of metabolism panels which are components of the the Paediatric disorders superpanel. The gene is also green on the Lysosomal storage disorder panel.
Congenital muscular dystrophy v7.26 MCOLN1 Eleanor Williams changed review comment from: Comment on list classification: Assigned red rating as the phenotype is suggestive of a muscle myopathy and is not confirmed dystrophy.; to: Comment on list classification: Assigned red rating as the phenotype is suggestive of a muscle myopathy and is not confirmed dystrophy.

In addition, as this is a syndromic condition, with intellectual disability and ophthalmologic abnormalities being the most consistently reported phenotypes, with myopathy being less consistently reported secondary feature, it is more appropriate for this gene to be tested through the Paediatric disorders superpanel as per National Genomic Test Directory recommendations (TD v9). The gene is already green on both the Intellectual disability and Likely inborn error of metabolism panels which are components of the the Paediatric disorders superpanel. The gene is also green on the Lysosomal storage disorder panel.
Congenital muscular dystrophy v7.21 MCOLN1 Eleanor Williams Classified gene: MCOLN1 as Red List (low evidence)
Congenital muscular dystrophy v7.21 MCOLN1 Eleanor Williams Added comment: Comment on list classification: Assigned red rating as the phenotype is suggestive of a muscle myopathy and is not confirmed dystrophy.
Congenital muscular dystrophy v7.21 MCOLN1 Eleanor Williams Gene: mcoln1 has been classified as Red List (Low Evidence).
Congenital muscular dystrophy v7.20 MCOLN1 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 18th June 2026
Congenital muscular dystrophy v7.20 MCOLN1 Eleanor Williams Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, OMIM:252650; mucolipidosis type IV, MONDO:0009653 to Mucolipidosis IV, OMIM:252650; mucolipidosis type IV, MONDO:0009653
Congenital muscular dystrophy v7.19 MCOLN1 Eleanor Williams Publications for gene: MCOLN1 were set to 33454187
Congenital muscular dystrophy v7.18 MCOLN1 Eleanor Williams changed review comment from: Mucolipidosis IV (ML4) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities (OMIM:605248)                                                                                                          

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition of the clinical overlap.

; to: Mucolipidosis IV (ML4) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities (OMIM:605248)                                                                                                          

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition of the clinical overlap.

Two other publications report cases with elevated creatine kinase in patients with homozygous variants in MCOLN1 and a myopathy, or suspected myopathy phenotype PMID:32604955 and PMID:42037965. Muscular dystrophy not mentioned in these cases.
Congenital muscular dystrophy v7.12 MCOLN1 Eleanor Williams changed review comment from: Mucolipidosis IV (ML4) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities (OMIM:605248)                                                                                                          

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition of the clinical overlap.

; to: Mucolipidosis IV (ML4) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities (OMIM:605248)                                                                                                          

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition of the clinical overlap.

Congenital muscular dystrophy v7.12 MCOLN1 Eleanor Williams Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, OMIM:252650; mucolipidosis type IV, MONDO:0009653
Congenital muscular dystrophy v7.11 MCOLN1 Eleanor Williams Publications for gene: MCOLN1 were set to
Congenital muscular dystrophy v7.10 MCOLN1 Eleanor Williams Classified gene: MCOLN1 as Red List (low evidence)
Congenital muscular dystrophy v7.10 MCOLN1 Eleanor Williams Gene: mcoln1 has been classified as Red List (Low Evidence).
Congenital muscular dystrophy v7.9 MCOLN1 Eleanor Williams Deleted their comment
Congenital muscular dystrophy v7.9 MCOLN1 Eleanor Williams changed review comment from: Mucolipidosis type IV, is a rare autosomal recessive lysosomal storage disease resulting from loss-of function mutations in the MCOLN1 gene (from PMID: 32604955 )                                                                                                            

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition
of the clinical overlap.

PMID: 32604955 Jezela-Stanek et al 2020; to: Mucolipidosis IV (ML4) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities (OMIM:605248)                                                                                                          

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition of the clinical overlap.

Congenital muscular dystrophy v7.9 MCOLN1 Eleanor Williams commented on gene: MCOLN1: Mucolipidosis type IV, is a rare autosomal recessive lysosomal storage disease resulting from loss-of function mutations in the MCOLN1 gene (from PMID: 32604955 )                                                                                                            

PMID: 33454187 Zambon et al 2021 - Bangladeshi boy with consanguineous parents presented with delayed motor milestones, hypotonia and an elevated creatine kinase (CK) at 2.5 yo. Electromyography revealed a myopathy with no evidence of peripheral neuropathy. Muscle biopsy showed evidence of lysosomal storage with mild degeneration/regeneration, but no overt dystrophic changes. WGS found a homozygous null variant in MCOLN1 c.514C>T; p.(Arg172Ter). Both parents were heterozygous carriers of this variant.
The authors note that MCOLN1 analysis may not be included in congenital muscular dystrophy gene panels due to the lack of recognition
of the clinical overlap.

PMID: 32604955 Jezela-Stanek et al 2020
Congenital muscular dystrophy v7.9 MCOLN1 Eleanor Williams reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: 33454187; Phenotypes: Mucolipidosis IV, OMIM:252650, mucolipidosis type IV, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v7.6 MCOLN1 Anna Sarkozy reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33454187; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v7.3 MCOLN1 Arina Puzriakova Classified gene: MCOLN1 as No list
Congenital muscular dystrophy v7.3 MCOLN1 Arina Puzriakova Gene: mcoln1 has been removed from the panel.
Congenital muscular dystrophy v7.2 MCOLN1 Arina Puzriakova gene: MCOLN1 was added
gene: MCOLN1 was added to Congenital muscular dystrophy. Sources: NHS GMS
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal