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Skeletal ciliopathies v3.21 DYNC2H1 Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Skeletal ciliopathies v3.20 GRK2 Achchuthan Shanmugasundram Classified gene: GRK2 as Amber List (moderate evidence)
Skeletal ciliopathies v3.20 GRK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families and some functional data available in support of the disease association. Hence, it should be rated amber with current evidence.
Skeletal ciliopathies v3.20 GRK2 Achchuthan Shanmugasundram Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v3.19 GRK2 Achchuthan Shanmugasundram Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune syndrome, MONDO:0018770
Skeletal ciliopathies v3.18 GRK2 Achchuthan Shanmugasundram reviewed gene: GRK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Jeune syndrome, MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v3.18 KIAA0586 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: KIAA0586.
Skeletal ciliopathies v3.18 KIAA0586 Sarah Leigh Classified gene: KIAA0586 as Amber List (moderate evidence)
Skeletal ciliopathies v3.18 KIAA0586 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Skeletal ciliopathies v3.18 KIAA0586 Sarah Leigh Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v3.17 KIAA0586 Sarah Leigh reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal ciliopathies v3.17 KIAA0586 Sarah Leigh Publications for gene: KIAA0586 were set to 26166481
Skeletal ciliopathies v3.16 KIAA0586 Sarah Leigh Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 to Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546; short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688
Skeletal ciliopathies v3.15 KIAA0586 Sarah Leigh Classified gene: KIAA0586 as Amber List (moderate evidence)
Skeletal ciliopathies v3.15 KIAA0586 Sarah Leigh Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v3.11 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Skeletal ciliopathies v3.11 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Skeletal ciliopathies v3.11 PRKACB Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACB.
Skeletal ciliopathies v3.11 PRKACA Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACA.
Skeletal ciliopathies v3.11 INTU Eleanor Williams Tag Q2_23_promote_green was removed from gene: INTU.
Skeletal ciliopathies v3.11 PRKACB Eleanor Williams reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal ciliopathies v3.11 PRKACA Eleanor Williams reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal ciliopathies v3.11 INTU Eleanor Williams reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v3.10 PRKACB Eleanor Williams Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v3.10 PRKACA Eleanor Williams Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v3.10 INTU Eleanor Williams Source Expert Review Green was added to INTU.
Source NHS GMS was added to INTU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v3.9 PMM2 Eleanor Williams Tag Q3_23_expert_review tag was added to gene: PMM2.
Skeletal ciliopathies v3.9 PMM2 Eleanor Williams Tag Q3_23_demote_red tag was added to gene: PMM2.
Skeletal ciliopathies v3.9 PMM2 Eleanor Williams commented on gene: PMM2: After reviewing the literature no patients were found with a skeletal phenotype so demotion to red on this panel is recommended. This has been confirmed with a Genomics England clinician. It is represented on the other ciliopathy panels, so shouldn't be missed for relevant phenotypes. It was initially added as a ciliopathy mimic.
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review.; to: Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review.
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: INTU.
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS update.; to: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review.
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram Classified gene: INTU as Amber List (moderate evidence)
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS update.
Skeletal ciliopathies v3.9 INTU Achchuthan Shanmugasundram Gene: intu has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v3.8 INTU Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Skeletal ciliopathies v3.8 INTU Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Skeletal ciliopathies v3.8 INTU Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Skeletal ciliopathies v3.7 INTU Achchuthan Shanmugasundram Publications for gene: INTU were set to 27158779; 29451301; 20067783
Skeletal ciliopathies v3.6 INTU Achchuthan Shanmugasundram reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 20067783, 27158779, 29451301; Phenotypes: ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925, ?Orofaciodigital syndrome XVII, OMIM:617926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v3.6 PRKACA Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PRKACA.
Skeletal ciliopathies v3.6 PRKACA Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 3 unrelated cases reported in literature (PMID: 33058759) and an additional case under the care of an NHS colleague with the same missense variant (p.Gly137Arg) and a limb phenotype.; to: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 3 unrelated cases reported in literature (PMID: 33058759) and an additional case under the care of an NHS colleague with the same de novo missense variant (p.Gly137Arg) and a limb phenotype (reported features include micromelia, polydactyly and AVSD).
Skeletal ciliopathies v3.6 PRKACA Arina Puzriakova Classified gene: PRKACA as Amber List (moderate evidence)
Skeletal ciliopathies v3.6 PRKACA Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 3 unrelated cases reported in literature (PMID: 33058759) and an additional case under the care of an NHS colleague with the same missense variant (p.Gly137Arg) and a limb phenotype.
Skeletal ciliopathies v3.6 PRKACA Arina Puzriakova Gene: prkaca has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v3.5 PRKACB Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PRKACB.
Skeletal ciliopathies v3.5 PRKACB Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis. Rating Amber based on the evidence provided in one publication (PMID:33058759) reporting 2/4 unrelated individuals with ID among other features, although this presentation was mild in one of these cases.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis. There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 4 unrelated cases, displaying a ciliopathy-like phenotype.
Skeletal ciliopathies v3.5 PRKACB Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.150
Skeletal ciliopathies v3.5 PRKACB Arina Puzriakova gene: PRKACB was added
gene: PRKACB was added to Skeletal ciliopathies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143
Penetrance for gene: PRKACB were set to unknown
Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal ciliopathies v3.4 PRKACA Arina Puzriakova Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth to Cardioacrofacial dysplasia 1, OMIM:619142
Skeletal ciliopathies v3.2 Arina Puzriakova Panel version 3.1 has been signed off on 2023-03-22
Skeletal ciliopathies v3.0 Arina Puzriakova promoted panel to version 3.0
Skeletal ciliopathies v2.5 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Skeletal ciliopathies v2.5 CSPP1 Eleanor Williams Tag Q4_21_rating was removed from gene: CSPP1.
Skeletal ciliopathies v2.5 CSPP1 Eleanor Williams commented on gene: CSPP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v2.4 CSPP1 Eleanor Williams Source Expert Review Green was added to CSPP1.
Source NHS GMS was added to CSPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v2.3 SUFU Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence)
Skeletal ciliopathies v2.3 SUFU Arina Puzriakova Added comment: Comment on list classification: Recessive phenotype fits the scope of this panel; however only two cases have been reported to date in a single paper. Monoallelic form does not appear to feature skeletal abnormalities but rather is dominated by neurological phenotypes. Therefore maintaining Amber rating and biallelic MOI on this panel but adding a watchlist tag.
Skeletal ciliopathies v2.3 SUFU Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v2.2 SUFU Arina Puzriakova Tag watchlist tag was added to gene: SUFU.
Skeletal ciliopathies v2.2 SUFU Arina Puzriakova reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 21289193, 28965847, 33024317, 34675124; Phenotypes: Joubert syndrome 32, OMIM:617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Skeletal ciliopathies v2.0 Catherine Snow promoted panel to version 2.0
Skeletal ciliopathies v1.19 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757
Skeletal ciliopathies v1.18 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to
Skeletal ciliopathies v1.17 C8orf37 Arina Puzriakova commented on gene: C8orf37
Skeletal ciliopathies v1.17 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Skeletal ciliopathies v1.17 IQCE Eleanor Williams Tag for-review was removed from gene: IQCE.
Skeletal ciliopathies v1.17 IQCE Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v1.16 IQCE Eleanor Williams Source Expert Review Green was added to IQCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v1.15 PDIA6 Eleanor Williams Classified gene: PDIA6 as Amber List (moderate evidence)
Skeletal ciliopathies v1.15 PDIA6 Eleanor Williams Added comment: Comment on list classification: Promoted from grey to amber. 1 case plus functional data.
Skeletal ciliopathies v1.15 PDIA6 Eleanor Williams Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v1.14 PDIA6 Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM. In Gene2Phenotype it is associated with PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy with Limited confidence.

As Zornitza Stark reports PMID: 33495992 (Al-Fadhli et al 2021) describes one case of a child with asphyxiating thoracic dystrophy (ATD) syndrome and infantile-onset diabetes who had a homozygous frameshift variant in the PDIA6 gene (NM_001282704.1:c.703del (p.Val235fs)) which is in exon 8 (of 15). The parents and unaffected sibling were heterozygous for this variant. The authors state that PDIA6 is not known yet to be involved in the formation or function of the primary cilia but suggest that it could be directly or indirectly interacting or required for proper protein folding of known or unknown ciliopathy protein. The X-ray findings at 6 months were consistent with typical radiological features of ATD syndrome.; to: Not associated with a phenotype in OMIM. In Gene2Phenotype it is associated with PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy with Limited confidence.

As Zornitza Stark reports PMID: 33495992 (Al-Fadhli et al 2021) describes one case of a child with asphyxiating thoracic dystrophy (ATD) syndrome and infantile-onset diabetes who had a homozygous frameshift variant in the PDIA6 gene (NM_001282704.1:c.703del (p.Val235fs)) which is in exon 8 (of 15). The parents and unaffected sibling were heterozygous for this variant. The authors state that PDIA6 is not known yet to be involved in the formation or function of the primary cilia but suggest that it could be directly or indirectly interacting or required for proper protein folding of known or unknown ciliopathy protein.

The X-ray findings at 6 months were consistent with typical radiological features of ATD syndrome. Other features include intrauterine growth retardation, multiple cysts in both kidneys associated with renal oligohydramnios (in first antenatal ultrasound) and hyperglycemia on the second day of life.
Skeletal ciliopathies v1.14 PDIA6 Eleanor Williams commented on gene: PDIA6
Skeletal ciliopathies v1.14 CSPP1 Eleanor Williams Classified gene: CSPP1 as Amber List (moderate evidence)
Skeletal ciliopathies v1.14 CSPP1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. 3 cases reported with a skeletal phenotype.
Skeletal ciliopathies v1.14 CSPP1 Eleanor Williams Gene: cspp1 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v1.13 CSPP1 Eleanor Williams Tag Q4_21_rating tag was added to gene: CSPP1.
Skeletal ciliopathies v1.13 CSPP1 Eleanor Williams Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, OMIM:615636; Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342
Skeletal ciliopathies v1.12 CSPP1 Eleanor Williams Publications for gene: CSPP1 were set to 24360808
Skeletal ciliopathies v1.11 CSPP1 Eleanor Williams reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803; Phenotypes: Joubert syndrome 21, OMIM:615636, Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v1.11 EVC Ivone Leong Added comment: Comment on phenotypes: It is also associated with ?Weyers acrofacial dysostosis, OMIM:193530.
Skeletal ciliopathies v1.11 EVC Ivone Leong Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500
Skeletal ciliopathies v1.10 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Skeletal ciliopathies v1.10 INTU Zornitza Stark gene: INTU was added
gene: INTU was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 27158779; 29451301; 20067783
Phenotypes for gene: INTU were set to Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Review for gene: INTU was set to GREEN
Added comment: Three families and a mouse model:

PMID: 27158779 - 1 hom (PTC) and 1 compound het (PTC/missense) patients with OFD or Short-rib thoracic dysplasia

PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system

PMID: 29451301 - 1 compound het patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Skeletal ciliopathies v1.10 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.

Rated Amber in view of the high impact variant combined with functional data including a mouse model.
Sources: Literature
Skeletal ciliopathies v1.10 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Skeletal ciliopathies v1.10 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Skeletal ciliopathies v1.10 TRIM32 Arina Puzriakova Tag curated_removed tag was added to gene: TRIM32.
Skeletal ciliopathies v1.10 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Skeletal ciliopathies v1.10 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Skeletal ciliopathies v1.10 SCLT1 Arina Puzriakova Tag curated_removed tag was added to gene: SCLT1.
Skeletal ciliopathies v1.10 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Skeletal ciliopathies v1.10 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Skeletal ciliopathies v1.10 LZTFL1 Arina Puzriakova Tag curated_removed tag was added to gene: LZTFL1.
Skeletal ciliopathies v1.10 IFT74 Arina Puzriakova Tag curated_removed tag was added to gene: IFT74.
Skeletal ciliopathies v1.10 IFT27 Arina Puzriakova Tag curated_removed tag was added to gene: IFT27.
Skeletal ciliopathies v1.10 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Skeletal ciliopathies v1.10 CENPF Arina Puzriakova Tag curated_removed tag was added to gene: CENPF.
Skeletal ciliopathies v1.10 CCDC28B Arina Puzriakova Tag curated_removed tag was added to gene: CCDC28B.
Skeletal ciliopathies v1.10 C8orf37 Arina Puzriakova Tag curated_removed tag was added to gene: C8orf37.
Skeletal ciliopathies v1.10 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Skeletal ciliopathies v1.10 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Skeletal ciliopathies v1.10 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Skeletal ciliopathies v1.10 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Skeletal ciliopathies v1.10 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Skeletal ciliopathies v1.10 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Skeletal ciliopathies v1.10 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Skeletal ciliopathies v1.10 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Skeletal ciliopathies v1.10 BBIP1 Arina Puzriakova Tag curated_removed tag was added to gene: BBIP1.
Skeletal ciliopathies v1.10 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Skeletal ciliopathies v1.10 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Skeletal ciliopathies v1.10 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Skeletal ciliopathies v1.10 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Skeletal ciliopathies v1.9 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Skeletal ciliopathies v1.8 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; JATD; Jeune asphyxiating thoracic dystrophy to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD
Skeletal ciliopathies v1.7 IQCE Eleanor Williams Tag for-review tag was added to gene: IQCE.
Skeletal ciliopathies v1.7 IQCE Eleanor Williams Classified gene: IQCE as Amber List (moderate evidence)
Skeletal ciliopathies v1.7 IQCE Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with recommendation of promoting to green following GMS review. 4 cases now reported.
Skeletal ciliopathies v1.7 IQCE Eleanor Williams Gene: iqce has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v1.6 IQCE Eleanor Williams gene: IQCE was added
gene: IQCE was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 28488682; 31549751
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642; polydactyly, postaxial, type a7 MONDO:0060550
Review for gene: IQCE was set to GREEN
Added comment: Green Expert Review of this gene on the Limb disorders panel.
PMID: 28488682 Umair et al 2017 report a large consanguineous family of Pakistani origin segregating post-axial polydactyly type A in the feet. A homozygous splice acceptor site variant (c.395-1G>A) was identified by WES in the IQCE gene, which completely co-segregated with the phenotype in the family. They report that the Iqce knockout mouse (MGI:1921489) shows various types of skeletal deformities including pre-axial polydactyly, digit abnormalities, and short and long tibia.

PMID: 31549751 - Estrada-Cuzcano et al 2019 - report 3 families with biallelic pathogenic variations in IQCE identified by WES. The same variant c.895_904del (p.Val301Serfs*8) was found in all families without sharing a common haplotype, suggesting a recurrent mechanism. In one family this variant as compound heterozygous with another IQCE variant p.Glu451Argfs*15. These families with post-axial polydactyly were initially recruited as syndromic ciliopathies and two have additional pathogenic variations in other genes (TULP1 and ATP6V1B1) explaining their apparent syndromic phenotype. Functional studies based on the patient's cells or zebrafish (Danio rerio) assays confirm the ciliary role of IQCE.
Sources: Literature
Skeletal ciliopathies v1.5 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Skeletal ciliopathies v1.4 RABL2A Eleanor Williams gene: RABL2A was added
gene: RABL2A was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: RABL2A was set to Unknown
Publications for gene: RABL2A were set to 33075816
Phenotypes for gene: RABL2A were set to polydactyly; growth retardation
Review for gene: RABL2A was set to RED
Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: Literature
Skeletal ciliopathies v1.3 PRKACA Zornitza Stark gene: PRKACA was added
gene: PRKACA was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759; 31130284
Phenotypes for gene: PRKACA were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth
Review for gene: PRKACA was set to GREEN
Added comment: This gene is difficult to place but this seems like the most appropriate panel.

Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 3 individuals heterozygous for PRKACA and 4 individuals heterozygous for PRKACB pathogenic variants.

The most characteristic features in all individuals with PRKACA/PRKACB mutation, included postaxial polydactyly of hands (6/7 bilateral, 1/7 unilateral) and feet (4/7 bilateral, 1/7 unilateral), brachydactyly and congenital heart defects (CHD 5/7) namely a common atrium or AVSD. Two individuals with PRKACA variant who did not have CHD had offspring with the same variant and an AVSD.

Other variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia.

The phenotype was overall suggestive of Ellis-van Creveld syndrome (or the allelic Weyers acrofacial dysostosis), although these diagnoses were ruled out following analysis of EVC and EVC2 genes.

PRKACA : A single heterozygous missense variant was identified in 3 individuals from 3 families (NM_002730.4:c.409G>A / p.Gly137Arg) with 1 of the probands harboring the variant in mosaic state (28% of reads) and having 2 similarly affected offspring. The variant was de novo in one individual and inherited in a third one having a similarly affected fetus (narrow thorax, postaxial polydactyly, AVSD).

By performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACA p.Gly137Arg / PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signaling likely underlies the developmental defects observed in affected individuals.

The authors cite another study where a 31-month old female with EvC syndrome diagnosis was found to harbor the aforementioned variant (NM_001304349.1:c.637G>A:p.Gly213Arg corresponding to NM_002730.4:c.409G>A / p.Gly137Arg) as a de novo event. Without additional evidence at the time, the variant was considered to be a candidate for this subject's phenotype (Monies et al 2019 – PMID: 31130284).
Sources: Literature
Skeletal ciliopathies v1.3 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: None
Skeletal ciliopathies v1.3 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Skeletal ciliopathies. Sources: Expert list
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to 26166481
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Review for gene: KIAA0586 was set to AMBER
Added comment: Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.
Sources: Expert list
Skeletal ciliopathies v1.3 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Skeletal ciliopathies. Sources: Expert list
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360808
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, MIM# 615636
Review for gene: CSPP1 was set to GREEN
gene: CSPP1 was marked as current diagnostic
Added comment: Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Sources: Expert list
Skeletal ciliopathies v1.3 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Skeletal ciliopathies v1.3 WDR34 Catherine Snow commented on gene: WDR34
Skeletal ciliopathies v1.3 WDR60 Catherine Snow commented on gene: WDR60
Skeletal ciliopathies v1.3 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Skeletal ciliopathies v1.3 Sarah Leigh Panel version has been signed off
Skeletal ciliopathies v1.0 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Skeletal ciliopathies v1.0 Eleanor Williams promoted panel to version 1.0
Skeletal ciliopathies v0.44 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Classified gene: WDPCP as No list
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Gene: wdpcp has been removed from the panel.
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Classified gene: TTC8 as No list
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Gene: ttc8 has been removed from the panel.
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Classified gene: TRIM32 as No list
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Gene: trim32 has been removed from the panel.
Skeletal ciliopathies v0.39 SDCCAG8 Eleanor Williams Classified gene: SDCCAG8 as No list
Skeletal ciliopathies v0.39 SDCCAG8 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.39 SDCCAG8 Eleanor Williams Gene: sdccag8 has been removed from the panel.
Skeletal ciliopathies v0.38 MKS1 Eleanor Williams Classified gene: MKS1 as No list
Skeletal ciliopathies v0.38 MKS1 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.38 MKS1 Eleanor Williams Gene: mks1 has been removed from the panel.
Skeletal ciliopathies v0.37 MKKS Eleanor Williams Classified gene: MKKS as No list
Skeletal ciliopathies v0.37 MKKS Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.37 MKKS Eleanor Williams Gene: mkks has been removed from the panel.
Skeletal ciliopathies v0.36 LZTFL1 Eleanor Williams Classified gene: LZTFL1 as No list
Skeletal ciliopathies v0.36 LZTFL1 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.36 LZTFL1 Eleanor Williams Gene: lztfl1 has been removed from the panel.
Skeletal ciliopathies v0.35 IFT74 Eleanor Williams Classified gene: IFT74 as No list
Skeletal ciliopathies v0.35 IFT74 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.35 IFT74 Eleanor Williams Gene: ift74 has been removed from the panel.
Skeletal ciliopathies v0.34 IFT27 Eleanor Williams Classified gene: IFT27 as No list
Skeletal ciliopathies v0.34 IFT27 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.34 IFT27 Eleanor Williams Gene: ift27 has been removed from the panel.
Skeletal ciliopathies v0.33 CCDC28B Eleanor Williams Classified gene: CCDC28B as No list
Skeletal ciliopathies v0.33 CCDC28B Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.33 CCDC28B Eleanor Williams Gene: ccdc28b has been removed from the panel.
Skeletal ciliopathies v0.32 C8orf37 Eleanor Williams Classified gene: C8orf37 as No list
Skeletal ciliopathies v0.32 C8orf37 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.32 C8orf37 Eleanor Williams Gene: c8orf37 has been removed from the panel.
Skeletal ciliopathies v0.31 BBS9 Eleanor Williams Classified gene: BBS9 as No list
Skeletal ciliopathies v0.31 BBS9 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.31 BBS9 Eleanor Williams Gene: bbs9 has been removed from the panel.
Skeletal ciliopathies v0.30 BBS7 Eleanor Williams Classified gene: BBS7 as No list
Skeletal ciliopathies v0.30 BBS7 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.30 BBS7 Eleanor Williams Gene: bbs7 has been removed from the panel.
Skeletal ciliopathies v0.29 BBS5 Eleanor Williams Classified gene: BBS5 as No list
Skeletal ciliopathies v0.29 BBS5 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.29 BBS5 Eleanor Williams Gene: bbs5 has been removed from the panel.
Skeletal ciliopathies v0.28 BBS4 Eleanor Williams Classified gene: BBS4 as No list
Skeletal ciliopathies v0.28 BBS4 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.28 BBS4 Eleanor Williams Gene: bbs4 has been removed from the panel.
Skeletal ciliopathies v0.27 BBS2 Eleanor Williams Classified gene: BBS2 as No list
Skeletal ciliopathies v0.27 BBS2 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.27 BBS2 Eleanor Williams Gene: bbs2 has been removed from the panel.
Skeletal ciliopathies v0.26 BBS12 Eleanor Williams Classified gene: BBS12 as No list
Skeletal ciliopathies v0.26 BBS12 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.26 BBS12 Eleanor Williams Gene: bbs12 has been removed from the panel.
Skeletal ciliopathies v0.25 BBS10 Eleanor Williams Classified gene: BBS10 as No list
Skeletal ciliopathies v0.25 BBS10 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.25 BBS10 Eleanor Williams Gene: bbs10 has been removed from the panel.
Skeletal ciliopathies v0.24 BBS1 Eleanor Williams Classified gene: BBS1 as No list
Skeletal ciliopathies v0.24 BBS1 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.24 BBS1 Eleanor Williams Gene: bbs1 has been removed from the panel.
Skeletal ciliopathies v0.23 BBIP1 Eleanor Williams Classified gene: BBIP1 as No list
Skeletal ciliopathies v0.23 BBIP1 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.23 BBIP1 Eleanor Williams Gene: bbip1 has been removed from the panel.
Skeletal ciliopathies v0.22 ARL6 Eleanor Williams Classified gene: ARL6 as No list
Skeletal ciliopathies v0.22 ARL6 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.22 ARL6 Eleanor Williams Gene: arl6 has been removed from the panel.
Skeletal ciliopathies v0.21 SUFU Eleanor Williams changed review comment from: PMID:28965847 - De Mori et al 2017 - All subjects presented peculiar facial dysmorphisms (hypertelorism, broad and depressed nasal bridge, frontal bossing), oculomotor apraxia, developmental delay with mild intellectual impairment, gait ataxia, and dysarthria. Three of them had post-axial polydactyly and two had global macrosomia with macrocephaly. One child also showed a few small dyskeratotic pits on the foot soles; to: PMID:28965847 - De Mori et al 2017 - 4 subjects from 2 families. All subjects presented peculiar facial dysmorphisms (hypertelorism, broad and depressed nasal bridge, frontal bossing), oculomotor apraxia, developmental delay with mild intellectual impairment, gait ataxia, and dysarthria. Three of them had post-axial polydactyly and two had global macrosomia with macrocephaly. One child also showed a few small dyskeratotic pits on the foot soles
Skeletal ciliopathies v0.21 WDPCP Eleanor Williams changed review comment from: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with orofacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.; to: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.
Skeletal ciliopathies v0.21 WDPCP Eleanor Williams commented on gene: WDPCP: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with orofacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.
Skeletal ciliopathies v0.21 PIK3C2A Eleanor Williams Classified gene: PIK3C2A as Green List (high evidence)
Skeletal ciliopathies v0.21 PIK3C2A Eleanor Williams Added comment: Comment on list classification: Rating green as 3 cases have been reported with skeletal involvement.
Skeletal ciliopathies v0.21 PIK3C2A Eleanor Williams Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal ciliopathies v0.20 PIK3C2A Eleanor Williams gene: PIK3C2A was added
gene: PIK3C2A was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440
Added comment: Associated with Oculoskeletodental syndrome #618440 (AR) in OMIM. This is based on evidence from PMID: 31034465 - Tiosano et al 2019 - report 5 individuals from 3 unrelated consanguineous families with a similar set of clinical features including dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts. The skeletal findings included "scoliosis, delayed bone age, diminished ossification of femoral heads, cervical lordosis, shortened fifth digits with mild metaphyseal dysplasia and clinodactyly". Homozygous loss-of-function mutations in PIK3C2A were identified in each family.

The authors found that PIK3C2A is critical for the formation of cilia and therefore is appropriate for inclusion on the skeletal ciliopathy panel.
Sources: Literature
Skeletal ciliopathies v0.19 KIAA0753 Eleanor Williams changed review comment from: Provisionally associated with ?Orofaciodigital syndrome XV (617127) in OMIM

PMID: 26643951 - Chevrier et al 2016 - 1 case of a newborn female presenting with an oral-facial-digital (OFD) VI syndrome in which they identified two causal heterozygous mutations in the KIAA0753 gene. Both KIAA0753 mutations, one nonsense variant (c.1891A>T; p.Lys631*) and one substitution in Intron 8 (c.1546-3C>A), were confirmed by Sanger sequencing, as well as the maternal heterozygous status for the non-sense variant. The sporadic occurrence of the c.1546-3C>A variant was confirmed by samples concordance. cDNA analysis indicates the intronic variant results in skipping of Exon 8 that caused a frameshift, changed the amino acids sequence and led to the occurrence of a premature stop codon. Because both mutations appeared truncating and probably compound heterozygous, they were considered as potentially causal.

PMID: 28220259 - Stephen et al 2017 - 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). Brain MRI of the younger sibling revealed the “molar tooth sign”, and she had global developmental delay. The older sibling was diagnosed after the younger sibling, and brain MRI showed an ectopic posterior pituitary gland in addition to the molar tooth sign. Hypotonia and global developmental delay were noted at 10 months. The parents were each heterozygous for one of the variants. Cilia formation in primary fibroblasts from patients was signficantly lower than in controls.

PMID: 29138412 - Hammarsjö et al 2017 - report biallelic pathogenic variants in KIAA0753 in four patients from 3 families with short-rib type skeletal dysplasia - ranging from prenatal lethality in one fetus to viability with moderate skeletal dysplasia in three children. 2 families had the same homozygous nonsense variant but are not thought to be related. In the 3rd family the index patient was compound heterogyzous. KIAA0753 is expressed in normal fetal human growth plate and they show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning. In family 1, they also identified an additional homozygous missense variant, c.425 C > T (p.Thr142Met) in SLC13A5 and conclude that the seizures and teeth hypoplasia in P1 and P2 are due to the homozygous SLC13A5 variant. ; to: Provisionally associated with ?Orofaciodigital syndrome XV (617127) in OMIM

PMID: 26643951 - Chevrier et al 2016 - 1 case of a newborn female presenting with an oral-facial-digital (OFD) VI syndrome in which they identified two causal heterozygous mutations in the KIAA0753 gene. Both KIAA0753 mutations, one nonsense variant (c.1891A>T; p.Lys631*) and one substitution in Intron 8 (c.1546-3C>A), were confirmed by Sanger sequencing, as well as the maternal heterozygous status for the non-sense variant. The sporadic occurrence of the c.1546-3C>A variant was confirmed by samples concordance. cDNA analysis indicates the intronic variant results in skipping of Exon 8 that caused a frameshift, changed the amino acids sequence and led to the occurrence of a premature stop codon. Because both mutations appeared truncating and probably compound heterozygous, they were considered as potentially causal.

PMID: 28220259 - Stephen et al 2017 - 2 siblings with Joubert syndrome associated with growth hormone deficiency but no oral or digital anomalies. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). Brain MRI of the younger sibling revealed the “molar tooth sign”, and she had global developmental delay. The older sibling was diagnosed after the younger sibling, and brain MRI showed an ectopic posterior pituitary gland in addition to the molar tooth sign. Hypotonia and global developmental delay were noted at 10 months. The parents were each heterozygous for one of the variants. Cilia formation in primary fibroblasts from patients was signficantly lower than in controls.

PMID: 29138412 - Hammarsjö et al 2017 - report biallelic pathogenic variants in KIAA0753 in four patients from 3 families with short-rib type skeletal dysplasia - ranging from prenatal lethality in one fetus to viability with moderate skeletal dysplasia in three children. 2 families had the same homozygous nonsense variant but are not thought to be related. In the 3rd family the index patient was compound heterogyzous. KIAA0753 is expressed in normal fetal human growth plate and they show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning. In family 1, they also identified an additional homozygous missense variant, c.425 C > T (p.Thr142Met) in SLC13A5 and conclude that the seizures and teeth hypoplasia in P1 and P2 are due to the homozygous SLC13A5 variant.
Skeletal ciliopathies v0.19 PMM2 Eleanor Williams commented on gene: PMM2
Skeletal ciliopathies v0.19 TXNDC15 Eleanor Williams Classified gene: TXNDC15 as No list
Skeletal ciliopathies v0.19 TXNDC15 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only.
Skeletal ciliopathies v0.19 TXNDC15 Eleanor Williams Gene: txndc15 has been removed from the panel.
Skeletal ciliopathies v0.18 SCLT1 Eleanor Williams Classified gene: SCLT1 as No list
Skeletal ciliopathies v0.18 SCLT1 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the skeletal phenotype is not strong.
Skeletal ciliopathies v0.18 SCLT1 Eleanor Williams Gene: sclt1 has been removed from the panel.
Skeletal ciliopathies v0.17 DDX59 Eleanor Williams Classified gene: DDX59 as No list
Skeletal ciliopathies v0.17 DDX59 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the skeletal phenotype is mainly polydactyly.
Skeletal ciliopathies v0.17 DDX59 Eleanor Williams Gene: ddx59 has been removed from the panel.
Skeletal ciliopathies v0.16 CENPF Eleanor Williams Classified gene: CENPF as No list
Skeletal ciliopathies v0.16 CENPF Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the phenotype is polydactyly only.
Skeletal ciliopathies v0.16 CENPF Eleanor Williams Gene: cenpf has been removed from the panel.
Skeletal ciliopathies v0.15 ZSWIM6 Eleanor Williams commented on gene: ZSWIM6
Skeletal ciliopathies v0.15 SCLT1 Eleanor Williams changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 15797711 - this paper does not appear to be about SCLT1 or ciliopathies

PMID: 23348840 - Tanos et al 2013 - identified SCLT1 as a component of distal appendages (DAPs) of centrioles that have been proposed to anchor cilia to the plasma membrane. It is one of five DAP components and is essential for ciliogenesis.

PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4),

PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family.

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein.

3 cases plus a mouse model and functional evidence that the protein is a ciliary protein.; to: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 15797711 - this paper does not appear to be about SCLT1 or ciliopathies

PMID: 23348840 - Tanos et al 2013 - identified SCLT1 as a component of distal appendages (DAPs) of centrioles that have been proposed to anchor cilia to the plasma membrane. It is one of five DAP components and is essential for ciliogenesis.

PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4),

PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family.

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein.

3 cases plus a mouse model and functional evidence that the protein is a ciliary protein.
Skeletal ciliopathies v0.15 LZTFL1 Eleanor Williams commented on gene: LZTFL1: Associated with Bardet-Biedl syndrome 17 #615994 (AR) in OMIM with polydactyly of hands and feet listed as clinical features.
Skeletal ciliopathies v0.15 DHCR7 Eleanor Williams commented on gene: DHCR7
Skeletal ciliopathies v0.15 CENPF Eleanor Williams commented on gene: CENPF
Skeletal ciliopathies v0.15 FAM149B1 Eleanor Williams changed review comment from: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.; to: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported. However, the skeletal phenotypes are polydactyly/clinodactyly only.
Skeletal ciliopathies v0.15 FAM149B1 Eleanor Williams Classified gene: FAM149B1 as Amber List (moderate evidence)
Skeletal ciliopathies v0.15 FAM149B1 Eleanor Williams Added comment: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.
Skeletal ciliopathies v0.15 FAM149B1 Eleanor Williams Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v0.14 FAM149B1 Eleanor Williams gene: FAM149B1 was added
gene: FAM149B1 was added to Skeletal ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome; oral-facial-digital syndrome; OFD VI
Review for gene: FAM149B1 was set to AMBER
Added comment: PMID: 30905400 - Shaheen et al 2019 - report 4 cases in which homozygous variants in the FAM149B1 gene are found in patients with a ciliopathy phenotype that most closely matches Joubert syndrome or Joubert syndrome/oral-facial-digital syndrome (OFD VI) . 3 of the cases in Consanguinity families of Arab origin have the same c.356_357del (p.Lys119Ilefs∗18) variant and haplotype analysis suggests a founder mutation. The fourth case in a Turkish family with Joubert syndrome was found to have a different homozygous truncating variant in the same gene (c.439C>T [p.Gln147∗])). Both variants are predicted to result in truncated proteins.
Functional studies - FAM149B1 encodes a protein of unknown function and mutant fibroblasts were found to have normal ciliogenesis potential. But some cilia-related abnormalities were observed in these cells: abnormal accumulation IFT complex at the distal tips of the cilia, which assumed bulbous appearance, increased length of the primary cilium, and dysregulated SHH signaling.
Sources: Literature
Skeletal ciliopathies v0.13 ICK Eleanor Williams commented on gene: ICK
Skeletal ciliopathies v0.13 ICK Eleanor Williams Tag new-gene-name tag was added to gene: ICK.
Skeletal ciliopathies v0.13 LBR Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic)
Skeletal ciliopathies v0.13 LBR Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Classified gene: IFT81 as Green List (high evidence)
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Added comment: Comment on list classification: Upgrading from Amber to Green as there is now an additional case in which the tandem duplication of 2 exons is predicted to result in a truncated protein (PMID: 30080953 - Pettersson et al 2018) in a patient with short-rib thoracic dysplasia.
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Gene: ift81 has been classified as Green List (High Evidence).
Skeletal ciliopathies v0.11 IFT81 Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.
Skeletal ciliopathies v0.11 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Skeletal ciliopathies v0.10 LBR Eleanor Williams Phenotypes for gene: LBR were changed from Skeletal Ciliopathies to Skeletal Ciliopathies; Greenberg skeletal dysplasia, 215140
Skeletal ciliopathies v0.9 LBR Eleanor Williams Publications for gene: LBR were set to
Skeletal ciliopathies v0.8 LBR Eleanor Williams changed review comment from: Associated with Greenberg skeletal dysplasia 215140 as well as several other phenotypes in OMIM. Also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia. Associated with HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA in Gene2Phenotype (confirmed).

From OMIM -
3 unrelated fetuses with Greenberg dysplasia, Clayton et al. (2010) identified homozygous or compound heterozygous mutations in the LBR gene. Functional assays suggests Greenberg dysplasia results from defects in the sterol reductase activity of LBR, not from the structural function of LBR as part of the nuclear membrane.

Waterham et al. (2003) found elevated levels of cholesta-8,14-dien-3-beta-ol in cultured skin fibroblasts of an 18-week-old fetus with HEM skeletal dysplasia, compatible with a deficiency of the cholesterol biosynthetic enzyme 3-beta-hydroxysterol delta(14)-reductase and identified a mutation in the LBR gene that resulted in a truncated protein.

PMID: 29068549 - Zhang et al 2018 - report a case of a neonate with a non-lethal form of asphyxiating thoracic dystrophy (ATD) and compound heterozygosity for missense mutations LBR . ; to: Associated with Greenberg skeletal dysplasia 215140 as well as several other phenotypes in OMIM. Also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia. Associated with HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA in Gene2Phenotype (confirmed).

From OMIM -
PMID: 21327084 - Clayton et al. (2010) - 3 unrelated fetuses with Greenberg dysplasia. They identified homozygous or compound heterozygous mutations in the LBR gene. Functional assays suggests Greenberg dysplasia results from defects in the sterol reductase activity of LBR, not from the structural function of LBR as part of the nuclear membrane.

PMID: 12618959 Waterham et al. (2003) - found elevated levels of cholesta-8,14-dien-3-beta-ol in cultured skin fibroblasts of an 18-week-old fetus with HEM skeletal dysplasia, compatible with a deficiency of the cholesterol biosynthetic enzyme 3-beta-hydroxysterol delta(14)-reductase and identified a mutation in the LBR gene that resulted in a truncated protein.

PMID: 29068549 - Zhang et al 2018 - report a case of a neonate with a non-lethal form of asphyxiating thoracic dystrophy (ATD) and compound heterozygosity for missense mutations LBR .
Skeletal ciliopathies v0.8 Eleanor Williams Panel status changed from internal to public
Skeletal ciliopathies v0.7 LBR Eleanor Williams Classified gene: LBR as Green List (high evidence)
Skeletal ciliopathies v0.7 LBR Eleanor Williams Added comment: Comment on list classification: Updating from red to green. On the Skeletal ciliopathies panel (rather than the Multisystem ciliopathies panel), it was felt that it could be promoted to green even though the phenotype is not multisystem. It is highly likely to be relevant in childhood.
Skeletal ciliopathies v0.7 LBR Eleanor Williams Gene: lbr has been classified as Green List (High Evidence).
Skeletal ciliopathies v0.6 SUFU Eleanor Williams commented on gene: SUFU
Skeletal ciliopathies v0.6 IFT81 Eleanor Williams Publications for gene: IFT81 were set to 27666822; 26275418
Skeletal ciliopathies v0.5 IFT81 Eleanor Williams commented on gene: IFT81
Skeletal ciliopathies v0.5 WDPCP Eleanor Williams commented on gene: WDPCP: From OMIM:
?Bardet-Biedl syndrome 15 - no clinical features reported
?Congenital heart defects, hamartomas of tongue, and polysyndactyly - Syndactyly, fingers 2-3 and Postaxial polydactyly
Skeletal ciliopathies v0.5 SDCCAG8 Eleanor Williams commented on gene: SDCCAG8
Skeletal ciliopathies v0.5 MKKS Eleanor Williams commented on gene: MKKS
Skeletal ciliopathies v0.5 BBS9 Eleanor Williams commented on gene: BBS9
Skeletal ciliopathies v0.5 BBS7 Eleanor Williams commented on gene: BBS7
Skeletal ciliopathies v0.5 BBS5 Eleanor Williams commented on gene: BBS5
Skeletal ciliopathies v0.5 BBS4 Eleanor Williams commented on gene: BBS4
Skeletal ciliopathies v0.5 BBS2 Eleanor Williams commented on gene: BBS2
Skeletal ciliopathies v0.5 BBS12 Eleanor Williams commented on gene: BBS12
Skeletal ciliopathies v0.5 BBS10 Eleanor Williams commented on gene: BBS10
Skeletal ciliopathies v0.5 BBS1 Eleanor Williams commented on gene: BBS1
Skeletal ciliopathies v0.5 ARL6 Eleanor Williams commented on gene: ARL6
Skeletal ciliopathies v0.4 SUFU Eleanor Williams gene: SUFU was added
gene: SUFU was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUFU were set to 28965847
Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757
Skeletal ciliopathies v0.1 TBC1D32 Eleanor Williams gene: TBC1D32 was added
gene: TBC1D32 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Skeletal ciliopathies v0.1 TAPT1 Eleanor Williams gene: TAPT1 was added
gene: TAPT1 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Skeletal ciliopathies v0.1 LBR Eleanor Williams gene: LBR was added
gene: LBR was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Skeletal Ciliopathies
Skeletal ciliopathies v0.1 B9D1 Eleanor Williams gene: B9D1 was added
gene: B9D1 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27
Skeletal ciliopathies v0.1 ZSWIM6 Eleanor Williams gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments
Skeletal ciliopathies v0.1 WDR60 Eleanor Williams gene: WDR60 was added
gene: WDR60 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR60 were set to 25492405; 23910462; 29271569; 26874042
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503; Short-rib thoracic dysplasia 8 with or without polydactyly; Jeune syndrome; SHORT-RIB POLYDACTYLY
Skeletal ciliopathies v0.1 WDR35 Eleanor Williams gene: WDR35 was added
gene: WDR35 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2, 613610; Cranioectodermal dysplasia; Short-rib thoracic dysplasia 7 with or without polydactyly; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Skeletal ciliopathies v0.1 WDR34 Eleanor Williams gene: WDR34 was added
gene: WDR34 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR34 were set to 24183449
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Skeletal ciliopathies v0.1 WDR19 Eleanor Williams gene: WDR19 was added
gene: WDR19 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly; Senior-Loken syndrome 8, 616307; Cranioectodermal dysplasia; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Jeune syndrome; Senior-Loken syndrome; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis
Skeletal ciliopathies v0.1 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Orphanet,Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 21258341; 27515926 (functional study in C. elegans); 21068128; 24876116 (Focal segmental glomerulosclerosis)
Phenotypes for gene: TTC21B were set to Nephronophthisis 12, 613820; Short-rib thoracic dysplasia 4 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis
Skeletal ciliopathies v0.1 TCTEX1D2 Eleanor Williams gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTEX1D2 were set to 28475963; 25830415; 26044572
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; JATD; Jeune asphyxiating thoracic dystrophy
Skeletal ciliopathies v0.1 SCLT1 Eleanor Williams gene: SCLT1 was added
gene: SCLT1 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28005958; 23348840; 24285566; 30425282; 28486600
Phenotypes for gene: SCLT1 were set to Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX
Skeletal ciliopathies v0.1 SBDS Eleanor Williams gene: SBDS was added
gene: SBDS was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBDS were set to 22554078
Phenotypes for gene: SBDS were set to Skeletal Ciliopathies
Skeletal ciliopathies v0.1 PMM2 Eleanor Williams gene: PMM2 was added
gene: PMM2 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9140401
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Skeletal ciliopathies v0.1 NEK1 Eleanor Williams gene: NEK1 was added
gene: NEK1 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Skeletal ciliopathies v0.1 IFT80 Eleanor Williams gene: IFT80 was added
gene: IFT80 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Skeletal ciliopathies v0.1 IFT52 Eleanor Williams gene: IFT52 was added
gene: IFT52 was added to Skeletal ciliopathies. Sources: Other,Expert Review Green
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT52 were set to 27466190; 26880018; 30242358
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
Skeletal ciliopathies v0.1 IFT43 Eleanor Williams gene: IFT43 was added
gene: IFT43 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 29896747; 28400947; 26892345; 24027799; 21378380; 22791528
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome; Short-rib thoracic dysplasia 18 with polydactyly, 617866
Skeletal ciliopathies v0.1 IFT172 Eleanor Williams gene: IFT172 was added
gene: IFT172 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 24140113
Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71, 616394; Short-rib thoracic dysplasia 10 with or without polydactyly; Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Skeletal ciliopathies v0.1 IFT140 Eleanor Williams gene: IFT140 was added
gene: IFT140 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT140 were set to 22503633
Phenotypes for gene: IFT140 were set to Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly
Skeletal ciliopathies v0.1 IFT122 Eleanor Williams gene: IFT122 was added
gene: IFT122 was added to Skeletal ciliopathies. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 19000668; 24027799; 23826986; 26792575; 24689072; 20493458
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia; Cranioectodermal dysplasia 1, 218330
Skeletal ciliopathies v0.1 ICK Eleanor Williams gene: ICK was added
gene: ICK was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187
Phenotypes for gene: ICK were set to short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO
Skeletal ciliopathies v0.1 EVC2 Eleanor Williams gene: EVC2 was added
gene: EVC2 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530
Skeletal ciliopathies v0.1 EVC Eleanor Williams gene: EVC was added
gene: EVC was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530
Skeletal ciliopathies v0.1 DYNC2LI1 Eleanor Williams gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Skeletal ciliopathies. Sources: Other,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2LI1 were set to 26077881
Phenotypes for gene: DYNC2LI1 were set to Short-rib throacic dysplasia 15 with polydactyly, 617088
Skeletal ciliopathies v0.1 DYNC2H1 Eleanor Williams gene: DYNC2H1 was added
gene: DYNC2H1 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Skeletal ciliopathies v0.1 DHCR7 Eleanor Williams gene: DHCR7 was added
gene: DHCR7 was added to Skeletal ciliopathies. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Skeletal ciliopathies v0.1 CEP120 Eleanor Williams gene: CEP120 was added
gene: CEP120 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 29847808
Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly; Jeune syndrome; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Skeletal ciliopathies v0.1 C2CD3 Eleanor Williams gene: C2CD3 was added
gene: C2CD3 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867
Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200)
Skeletal ciliopathies v0.1 C21orf2 Eleanor Williams gene: C21orf2 was added
gene: C21orf2 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433; 27548899; 23105016; 26167768
Phenotypes for gene: C21orf2 were set to Jeune asphyxiating thoracic dystrophy (JATD); Jeune Syndrome; Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547
Skeletal ciliopathies v0.1 IFT81 Eleanor Williams gene: IFT81 was added
gene: IFT81 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 27666822; 26275418
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Skeletal ciliopathies v0.1 IFT27 Eleanor Williams gene: IFT27 was added
gene: IFT27 was added to Skeletal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Amber
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, 615996
Skeletal ciliopathies v0.1 TRIM32 Eleanor Williams gene: TRIM32 was added
gene: TRIM32 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Expert Review Red,UKGTN
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM32 were set to 11822024; 16606853
Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110
Skeletal ciliopathies v0.1 IFT74 Eleanor Williams gene: IFT74 was added
gene: IFT74 was added to Skeletal ciliopathies. Sources: Other,Expert Review Red
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119
Skeletal ciliopathies v0.1 CCDC28B Eleanor Williams gene: CCDC28B was added
gene: CCDC28B was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Expert Review Red,UKGTN
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 23015189
Phenotypes for gene: CCDC28B were set to ciliopathies; {Bardet-Biedl syndrome 1, modifier of}, 209900
Skeletal ciliopathies v0.1 C8orf37 Eleanor Williams gene: C8orf37 was added
gene: C8orf37 was added to Skeletal ciliopathies. Sources: Other,Expert Review Red
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406
Skeletal ciliopathies v0.1 BBIP1 Eleanor Williams gene: BBIP1 was added
gene: BBIP1 was added to Skeletal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995
Skeletal ciliopathies v0.1 WDPCP Eleanor Williams gene: WDPCP was added
gene: WDPCP was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 20671153
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; Meckel syndrome; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Skeletal ciliopathies v0.1 TXNDC15 Eleanor Williams gene: TXNDC15 was added
gene: TXNDC15 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNDC15 were set to 27894351
Phenotypes for gene: TXNDC15 were set to MGS; Meckel-Gruber syndrome
Skeletal ciliopathies v0.1 TTC8 Eleanor Williams gene: TTC8 was added
gene: TTC8 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC8 were set to 14520415
Phenotypes for gene: TTC8 were set to Bardet Biedl syndrome 8
Skeletal ciliopathies v0.1 SDCCAG8 Eleanor Williams gene: SDCCAG8 was added
gene: SDCCAG8 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green,Orphanet
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDCCAG8 were set to 22190896
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome; 613615; Senior-Loken syndrome
Skeletal ciliopathies v0.1 MKS1 Eleanor Williams gene: MKS1 was added
gene: MKS1 was added to Skeletal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKS1 were set to 26490104; 17437276; 18327255; 24886560; 16415886
Phenotypes for gene: MKS1 were set to occipital encephalocele; Joubert syndrome; Bardet-Biedl syndrome; Joubert syndrome 28; 249000; polydactyly; polycystic kidneys; Meckel-Gruber syndrome; Meckel syndrome; renal fibrosis
Mode of pathogenicity for gene: MKS1 was set to Other - please provide details in the comments
Skeletal ciliopathies v0.1 MKKS Eleanor Williams gene: MKKS was added
gene: MKKS was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 10802661; 10973251; 10973238
Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6; 236700
Skeletal ciliopathies v0.1 LZTFL1 Eleanor Williams gene: LZTFL1 was added
gene: LZTFL1 was added to Skeletal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 27312011; 23692385
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
Skeletal ciliopathies v0.1 KIAA0753 Eleanor Williams gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 29138412; 28220259; 26643951
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia
Skeletal ciliopathies v0.1 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Skeletal ciliopathies v0.1 DDX59 Eleanor Williams gene: DDX59 was added
gene: DDX59 was added to Skeletal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 29127725; 23972372; 28711741
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300
Skeletal ciliopathies v0.1 CENPF Eleanor Williams gene: CENPF was added
gene: CENPF was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Skeletal ciliopathies v0.1 BBS9 Eleanor Williams gene: BBS9 was added
gene: BBS9 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS9 were set to 16380913
Phenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9
Skeletal ciliopathies v0.1 BBS7 Eleanor Williams gene: BBS7 was added
gene: BBS7 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS7 were set to 12567324
Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7
Skeletal ciliopathies v0.1 BBS5 Eleanor Williams gene: BBS5 was added
gene: BBS5 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS5 were set to 15137946
Phenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5
Skeletal ciliopathies v0.1 BBS4 Eleanor Williams gene: BBS4 was added
gene: BBS4 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS4 were set to 11381270; 22353939
Phenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4
Skeletal ciliopathies v0.1 BBS2 Eleanor Williams gene: BBS2 was added
gene: BBS2 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS2 were set to 11285252
Phenotypes for gene: BBS2 were set to Bardet Biedl syndrome 2
Skeletal ciliopathies v0.1 BBS12 Eleanor Williams gene: BBS12 was added
gene: BBS12 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS12 were set to 17160889
Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12
Skeletal ciliopathies v0.1 BBS10 Eleanor Williams gene: BBS10 was added
gene: BBS10 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS10 were set to 16582908
Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10
Skeletal ciliopathies v0.1 BBS1 Eleanor Williams gene: BBS1 was added
gene: BBS1 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 23143442; 12118255
Phenotypes for gene: BBS1 were set to Bardet Biedl syndrome 13; 268000; Bardet Biedl syndrome 1; Bardet Biedl syndrome 11
Skeletal ciliopathies v0.1 ARL6 Eleanor Williams gene: ARL6 was added
gene: ARL6 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 15258860; 21282186
Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}; Bardet-Biedl Syndrome; 268000; Bardet Biedl syndrome 3
Skeletal ciliopathies v0.0 Eleanor Williams Added Panel Skeletal ciliopathies
Set panel types to: GMS Rare Disease Virtual