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Congenital myopathy v7.36 CNTN1 Achchuthan Shanmugasundram changed review comment from: PMID:19026398 (2008) reported four individuals from a consanguineous family of Egyptian descent with a lethal congenital myopathy characterised by secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. The patients were identified with a homozygous thymidine duplication (c.871dupT) within exon 8 predicted to result in a reading frameshift introducing a premature stop codon (S291fsX296). There is also functional evidence available from cntn1 null mouse, which presented with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family.

PMID:32779773 (2020) reported two siblings presenting parentally with fetal akinesia and with homozygous deletion of exons 2-15 and 18-19. Other features included micrognathia and skin oedema in one, and pleural and pericardial effusions and skin oedema in the other. Both siblings had arthrogryposis and lung hypoplasia.

This gene has been associated with relevant phenotype in OMIM (MIM #612540, last accessed 28 May 2026).; to: PMID:19026398 (2008) reported four individuals from a consanguineous family of Egyptian descent with a lethal congenital myopathy characterised by secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. The patients were identified with a homozygous thymidine duplication (c.871dupT) within exon 8 predicted to result in a reading frameshift introducing a premature stop codon (S291fsX296). There is also functional evidence available from cntn1 null mouse, which presented with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family.

PMID:32779773 (2020) reported two siblings presenting parentally with fetal akinesia and with homozygous deletion of exons 2-15 and 18-19. Other features included micrognathia and skin oedema in one, and pleural and pericardial effusions and skin oedema in the other. Both siblings had arthrogryposis and lung hypoplasia. The siblings died after 3 and 5 days after birth.

This gene has been associated with relevant phenotype in OMIM (MIM #612540, last accessed 28 May 2026).
Congenital myopathy v7.36 CNTN1 Achchuthan Shanmugasundram Classified gene: CNTN1 as Amber List (moderate evidence)
Congenital myopathy v7.36 CNTN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are two unrelated families reported with biallelic CNTN1 variants, myopathy was only reported in one. The siblings from the second family died after 3 and 5 days after birth. Both families were reported with fetal akinesia. There is also functional evidence available from cntn1 null mouse which showed progressive muscle weakness. Hence, this gene can only be rated amber on this panel with current evidence (one family and functional evidence).
Congenital myopathy v7.36 CNTN1 Achchuthan Shanmugasundram Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v7.35 CNTN1 Achchuthan Shanmugasundram Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, OMIM:612540 to Congenital myopathy 12, OMIM:612540
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram edited their review of gene: CNTN1: Changed publications to: 19026398, 32779773; Changed phenotypes to: Congenital myopathy 12, OMIM:612540
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram changed review comment from: PMID:19026398 (2008) reported four individuals from a consanguineous family of Egyptian descent with a lethal congenital myopathy characterised by secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. The patients were identified with a homozygous thymidine duplication (c.871dupT) within exon 8 predicted to result in a reading frameshift introducing a premature stop codon (S291fsX296). There is also functional evidence available from cntn1 null mouse, which presented with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family.

PMID:32779773 (2020) reported two siblings presenting parentally with fetal akinesia. Other features included micrognathia and skin oedema in one, and pleural and pericardial effusions and skin oedema in the other. Both siblings had arthrogryposis and lung hypoplasia.

This gene has been associated with relevant phenotype in OMIM (MIM #612540, last accessed 28 May 2026).; to: PMID:19026398 (2008) reported four individuals from a consanguineous family of Egyptian descent with a lethal congenital myopathy characterised by secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. The patients were identified with a homozygous thymidine duplication (c.871dupT) within exon 8 predicted to result in a reading frameshift introducing a premature stop codon (S291fsX296). There is also functional evidence available from cntn1 null mouse, which presented with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family.

PMID:32779773 (2020) reported two siblings presenting parentally with fetal akinesia and with homozygous deletion of exons 2-15 and 18-19. Other features included micrognathia and skin oedema in one, and pleural and pericardial effusions and skin oedema in the other. Both siblings had arthrogryposis and lung hypoplasia.

This gene has been associated with relevant phenotype in OMIM (MIM #612540, last accessed 28 May 2026).
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram edited their review of gene: CNTN1: Changed rating: AMBER
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram Deleted their comment
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram commented on gene: CNTN1: PMID:19026398 (2008) reported four individuals from a consanguineous family of Egyptian descent with a lethal congenital myopathy characterised by secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. The patients were identified with a homozygous thymidine duplication (c.871dupT) within exon 8 predicted to result in a reading frameshift introducing a premature stop codon (S291fsX296). There is also functional evidence available from cntn1 null mouse, which presented with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family.

PMID:32779773 (2020) reported two siblings presenting parentally with fetal akinesia. Other features included micrognathia and skin oedema in one, and pleural and pericardial effusions and skin oedema in the other. Both siblings had arthrogryposis and lung hypoplasia.

This gene has been associated with relevant phenotype in OMIM (MIM #612540, last accessed 28 May 2026).
Congenital myopathy v7.34 CNTN1 Achchuthan Shanmugasundram reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: Congenital myopathy 12, OMIM:612540; Phenotypes: 19026398, 32779773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v7.14 CNTN1 Anna Sarkozy edited their review of gene: CNTN1: Added comment: 2 families reported with variants in this gene; severe phenotype with fetal akinesia and nonspecific myopathic features on skeletal muscle biopsy.; Changed rating: GREEN; Changed publications to: 32779773, 19026398
Congenital myopathy v3.14 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Congenital myopathy v3.14 CNTN1 Eleanor Williams commented on gene: CNTN1
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v2.57 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Congenital myopathy v2.56 CNTN1 Rhiannon Mellis reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32779773; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.149 CNTN1 Anna Sarkozy edited their review of gene: CNTN1: Added comment: single family reported with CNTN1 variant.; Changed rating: AMBER
Congenital myopathy v1.144 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
Congenital myopathy v1.120 CNTN1 Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.118 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.117 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.116 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v1.76 CNTN1 Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 CNTN1 Rachael Mein reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 CNTN1 Louise Daugherty Source NHS GMS was added to CNTN1.
Congenital myopathy v1.73 CNTN1 Louise Daugherty Source London South GLH was added to CNTN1.
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as amber
Congenital myopathy CNTN1 Anna Sarkozy reviewed CNTN1
Congenital myopathy CNTN1 Helen Brittain marked CNTN1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as red
Congenital myopathy CNTN1 Helen Brittain reviewed CNTN1