Activity
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21 actions
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| Respiratory ciliopathies including non-CF bronchiectasis v4.44 | DNAH14 | Achchuthan Shanmugasundram Tag disputed was removed from gene: DNAH14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.44 | DNAH14 | Achchuthan Shanmugasundram Tag disputed tag was added to gene: DNAH14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.33 | DNAH14 |
Achchuthan Shanmugasundram gene: DNAH14 was added gene: DNAH14 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH14 were set to primary ciliary dyskinesia, MONDO:0016575 Review for gene: DNAH14 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel is currently reviewing the evidence for the association of DNAH14 gene to primary ciliary dyskinesia (MONDO:0016575). More information can be found in https://search.clinicalgenome.org/kb/genes/HGNC:2945. Sources: ClinGen |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.28 | DNAH10 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.26 | DNAH1 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs*33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH1 variants to ciliary dyskinesia, primary, 37 (MONDO:0033204) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:004667. As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs*33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.26 | DNAH10 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008793 for more information. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.26 | DNAH10 |
Achchuthan Shanmugasundram gene: DNAH10 was added gene: DNAH10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH10 were set to Spermatogenic failure 56, OMIM:619515; primary ciliary dyskinesia, MONDO:0016575 Review for gene: DNAH10 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008793 for more information. Sources: ClinGen |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.24 | DNAH1 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel have classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs*33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.; to: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs*33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.24 | DNAH1 | Achchuthan Shanmugasundram Phenotypes for gene: DNAH1 were changed from Too new - not yet linked to the PCD mutations publication to Ciliary dyskinesia, primary, 37, OMIM:617577; ciliary dyskinesia, primary, 37, MONDO:0033204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.23 | DNAH1 | Achchuthan Shanmugasundram Publications for gene: DNAH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.22 | DNAH1 | Achchuthan Shanmugasundram Classified gene: DNAH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.22 | DNAH1 | Achchuthan Shanmugasundram Gene: dnah1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.21 | DNAH1 | Achchuthan Shanmugasundram reviewed gene: DNAH1: Rating: RED; Mode of pathogenicity: None; Publications: 25927852, 31765523, 34210339; Phenotypes: Ciliary dyskinesia, primary, 37, OMIM:617577, ciliary dyskinesia, primary, 37, MONDO:0033204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | DNAH11 |
Louise Daugherty Mode of inheritance for gene DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAH11 |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | DNAH1 |
Louise Daugherty Mode of inheritance for gene DNAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Too new - not yet linked to the PCD mutations publication for gene: DNAH1 |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAH11 |
Louise Daugherty Source Expert Review Green was added to DNAH11. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAH1 |
Louise Daugherty Source Expert Review Amber was added to DNAH1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAH11 | Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAH1 | Louise Daugherty reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAH11 |
Louise Daugherty gene: DNAH11 was added gene: DNAH11 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH11 was set to |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAH1 |
Louise Daugherty gene: DNAH1 was added gene: DNAH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH1 was set to |
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