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Primary ciliary disorders v1.41 DYNC2H1 Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from ciliopathies to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Primary ciliary disorders v1.40 OFD1 Amelia Shoemark reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179 31366608; Phenotypes: ciliopathies, primary ciliary dyskinesia, joubert; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary ciliary disorders v1.40 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
Primary ciliary disorders v1.40 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh commented on gene: XPNPEP3: Helen Brittain (GEL Clinical Fellow) agrees with the review from Ian Berry (below) that this gene is not relevant for Primary ciliary disorders. XPNPEP3 is recommended to be green on Renal ciliopathies (https://panelapp.genomicsengland.co.uk/panels/725/gene/XPNPEP3/#!review).
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Red List (low evidence)
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, the reviewers question the relevance of the phenotype associated with variants in XPNPEP3. Helen Brittain (GEL Clinical Fellow) has been consulted regarding this issue.
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Red List (Low Evidence).
Primary ciliary disorders v1.39 XPNPEP3 Sarah Leigh reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary ciliary disorders v1.39 XPNPEP3 Sarah Leigh Mode of inheritance for gene: XPNPEP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders v1.38 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to
Primary ciliary disorders v1.37 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from ciliopathies to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Primary ciliary disorders v1.36 LZTFL1 Sarah Leigh Phenotypes for gene: LZTFL1 were changed from Visceral Heterotaxy; Bardet-Biedl Syndrome 17 to Visceral Heterotaxy; Bardet-Biedl Syndrome 17
Publications for gene: LZTFL1 were updated from 22510444; 23692385 to 22510444; 23692385
Primary ciliary disorders v1.35 ATXN10 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Primary ciliary disorders v1.35 ATXN10 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Primary ciliary disorders v1.35 ATXN10 Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from to Other
Primary ciliary disorders v1.34 ATXN10 Arina Puzriakova Phenotypes for gene: ATXN10 were changed from ciliopathies to Spinocerebellar ataxia 10, OMIM:603516; Ciliopathies
Primary ciliary disorders v1.33 CFAP221 Ivone Leong Entity copied from Respiratory ciliopathies including non-CF bronchiectasis v1.47
Primary ciliary disorders v1.33 CFAP221 Ivone Leong gene: CFAP221 was added
gene: CFAP221 was added to Primary ciliary disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia, MONDO:0016575
Primary ciliary disorders v1.32 NEK10 Arina Puzriakova Classified gene: NEK10 as Green List (high evidence)
Primary ciliary disorders v1.32 NEK10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zerin Hyder. NEK10 is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association and so this gene has been added as Green - sufficient number of unrelated cases (>3) and functional support.
Primary ciliary disorders v1.32 NEK10 Arina Puzriakova Gene: nek10 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.31 NEK10 Arina Puzriakova Phenotypes for gene: NEK10 were changed from primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, OMIM:618781
Primary ciliary disorders v1.30 NEK10 Arina Puzriakova Publications for gene: NEK10 were set to 31959991
Primary ciliary disorders v1.29 ATXN10 Arina Puzriakova Tag curated_removed tag was added to gene: ATXN10.
Primary ciliary disorders v1.29 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Primary ciliary disorders v1.29 CCDC151 Catherine Snow commented on gene: CCDC151
Primary ciliary disorders v1.29 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Primary ciliary disorders v1.29 ARMC4 Catherine Snow commented on gene: ARMC4
Primary ciliary disorders v1.29 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Primary ciliary disorders v1.29 CCDC114 Catherine Snow commented on gene: CCDC114
Primary ciliary disorders v1.29 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Primary ciliary disorders v1.29 LRRC6 Catherine Snow commented on gene: LRRC6
Primary ciliary disorders v1.29 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from ciliopathies to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Primary ciliary disorders v1.28 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from ciliopathies to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Primary ciliary disorders v1.27 MCIDAS Ivone Leong Phenotypes for gene: MCIDAS were changed from Too new - not yet linked to the PCD mutations publication to Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Deleted their review
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Tag for-review was removed from gene: GAS2L2.
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.24 GAS2L2 Arina Puzriakova Tag for-review tag was added to gene: GAS2L2.
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Added comment: Comment on list classification: Promoting to Green based on expert review. Gene has been updated with Ensembl gene identifiers.
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.22 SPEF2 Zornitza Stark gene: SPEF2 was added
gene: SPEF2 was added to Primary ciliary disorders. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to AMBER
Added comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating suggested.
Sources: Literature
Primary ciliary disorders v1.22 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Primary ciliary disorders. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
gene: TTC12 was marked as current diagnostic
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Literature
Primary ciliary disorders v1.22 NEK10 Zerin Hyder gene: NEK10 was added
gene: NEK10 was added to Primary ciliary disorders. Sources: Other
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to primary ciliary dyskinesia; bronchiectasis
Penetrance for gene: NEK10 were set to unknown
Review for gene: NEK10 was set to GREEN
Added comment: In 9 patients from 5 unrelated consanguineous or likely consanguineous families with primary ciliary dyskinesia, Chivikula et al identified homozygous mutations in the NEK10 gene, which segregated with the disorder in all families and was confirmed by linkage analysis in 3 families. Analysis of human bronchial epithelial cells (HBECs) derived from 1 patient showed almost absent NEK10 protein expression, hypoplastic or shorter cilia, and reduced overall ciliary motion compared to controls, suggesting a loss-of-function effect. Detailed functional studies of these cells showed almost absent mucociliary transport, although cilia radial ultrastructure and beat frequency were normal. All individuals had previously unexplained bronchiectasis with CF excluded and no extrapulmonary features or situs inversus.
Sources: Other
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Added comment: Comment on list classification: Demoting to Amber for now as this gene currently has no Ensembl IDs in PanelApp. Will promote to green again when this issue is resolved.
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team it was decided to change the rating of this gene from Amber to Green based on the additional green expert review.
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.20 GAS2L2 Eleanor Williams Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia; ?Ciliary dyskinesia, primary, 41 618449
Primary ciliary disorders v1.19 GAS2L2 Matthew Edwards reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30665704; Phenotypes: OMIM 618449 Ciliary dyskinesia, primary, 41; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary ciliary disorders v1.17 GAS2L2 Louise Daugherty Publications for gene: GAS2L2 were set to PMID: 30665704
Primary ciliary disorders v1.16 DNAH9 Simon Thomas gene: DNAH9 was added
gene: DNAH9 was added to Primary ciliary disorders. Sources: Literature
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to PMID: 30471717; 30471718
Review for gene: DNAH9 was set to GREEN
Added comment: Discussed on Respiratory TC.
Sources: Literature
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.15 GAS2L2 Anna de Burca gene: GAS2L2 was added
gene: GAS2L2 was added to Primary ciliary disorders. Sources: Expert Review
watchlist tags were added to gene: GAS2L2.
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to PMID: 30665704
Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia
Review for gene: GAS2L2 was set to AMBER
Added comment: PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts.
Sources: Expert Review
Primary ciliary disorders v1.14 LZTFL1 Eleanor Williams commented on gene: LZTFL1
Primary ciliary disorders ATXN10 Ellen McDonagh classified ATXN10 as No list
Primary ciliary disorders C2orf71 Louise Daugherty commented on gene: C2orf71
Primary ciliary disorders C21orf59 Louise Daugherty commented on C21orf59
Primary ciliary disorders C5orf42 Louise Daugherty commented on C5orf42
Primary ciliary disorders RPGR Louise Daugherty commented on RPGR
Primary ciliary disorders CCDC151 Louise Daugherty commented on CCDC151
Primary ciliary disorders DNAH1 Sarah Leigh reviewed DNAH1
Primary ciliary disorders LZTFL1 Helen Brittain marked LZTFL1 as ready
Primary ciliary disorders LZTFL1 Helen Brittain classified LZTFL1 as amber
Primary ciliary disorders RPGR Helen Brittain reviewed RPGR
Primary ciliary disorders OFD1 Helen Brittain reviewed OFD1
Primary ciliary disorders NPHP4 Helen Brittain reviewed NPHP4
Primary ciliary disorders NME8 Helen Brittain reviewed NME8
Primary ciliary disorders LZTFL1 Helen Brittain reviewed LZTFL1
Primary ciliary disorders CCDC39 Helen Brittain reviewed CCDC39
Primary ciliary disorders CCDC114 Helen Brittain reviewed CCDC114
Primary ciliary disorders CCDC103 Helen Brittain reviewed CCDC103
Primary ciliary disorders AGPAT2 Helen Brittain reviewed AGPAT2
Primary ciliary disorders DNAI1 Helen Brittain reviewed DNAI1
Primary ciliary disorders DNAH5 Helen Brittain reviewed DNAH5
Primary ciliary disorders DNAH11 Helen Brittain reviewed DNAH11
Primary ciliary disorders CEP55 Sarah Leigh added CEP55 to panel
Primary ciliary disorders CEP55 Sarah Leigh reviewed CEP55
Primary ciliary disorders DYX1C1 Louise Daugherty commented on DYX1C1
Primary ciliary disorders PIH1D3 Ellen McDonagh classified PIH1D3 as green
Primary ciliary disorders PIH1D3 Ellen McDonagh edited their review of PIH1D3
Primary ciliary disorders PIH1D3 Ellen McDonagh commented on PIH1D3
Primary ciliary disorders PIH1D3 Ellen McDonagh added PIH1D3 to panel
Primary ciliary disorders PIH1D3 Ellen McDonagh reviewed PIH1D3
Primary ciliary disorders DFNB31 Louise Daugherty commented on DFNB31
Primary ciliary disorders ATXN10 Ellen McDonagh commented on ATXN10