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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) |
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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) |
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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) |
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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 |
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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) |
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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) |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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. |
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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 |
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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. |
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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. |
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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 |
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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 . |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Skeletal ciliopathies v0.0 |
Eleanor Williams Added Panel Skeletal ciliopathies Set panel types to: GMS Rare Disease Virtual |