Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Renal ciliopathies v3.5 | DLG5 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Yuksel-Vogel-Bauser syndrome, OMIM:620703) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v3.5 | DLG5 | Arina Puzriakova Phenotypes for gene: DLG5 were changed from DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) to Yuksel-Vogel-Bauser syndrome, OMIM:620703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v3.4 | DLG5 | Arina Puzriakova Tag gene-checked was removed from gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v3.4 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.9 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.9 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.8 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.8 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.7 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.6 | ANKS6 | Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.6 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.5 | ANKS6 | Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.5 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.4 | ZNF423 |
Sarah Leigh Tag Q3_22_rating was removed from gene: ZNF423. Tag Q3_22_expert_review was removed from gene: ZNF423. |
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Renal ciliopathies v2.4 | XPNPEP3 | Sarah Leigh Tag Q1_22_rating was removed from gene: XPNPEP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.4 | XPNPEP3 |
Sarah Leigh Source Expert Review Green was added to XPNPEP3. Source NHS GMS was added to XPNPEP3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Renal ciliopathies v2.3 | XPNPEP3 | Sarah Leigh changed review comment from: The rating of this gene has been updated to XX following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.3 | ZNF423 | Sarah Leigh reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.3 | XPNPEP3 | Sarah Leigh commented on gene: XPNPEP3: The rating of this gene has been updated to XX following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.2 | NPHP1 | Achchuthan Shanmugasundram Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.1 | NPHP1 | Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415307; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | ZNF423 |
Eleanor Williams Tag Q1_22_expert_review was removed from gene: ZNF423. Tag Q3_22_rating tag was added to gene: ZNF423. Tag Q3_22_expert_review tag was added to gene: ZNF423. |
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Renal ciliopathies v1.64 | ZNF423 | Eleanor Williams commented on gene: ZNF423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | TTC21B | Eleanor Williams commented on gene: TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | TTC21B | Eleanor Williams Tag watchlist_moi tag was added to gene: TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | C8orf37 | Arina Puzriakova commented on gene: C8orf37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | C8orf37 | Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | TXNDC15 | Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | DLG5 | Sarah Leigh Tag gene-checked tag was added to gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | DLG5 | Sarah Leigh Added comment: Comment on phenotypes: Phenotypes reported by Gen2Phen https://www.ebi.ac.uk/gene2phenotype/search?panel=ALL&search_term=DLG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.64 | DLG5 | Sarah Leigh Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.63 | ZNF423 | Arina Puzriakova Phenotypes for gene: ZNF423 were changed from Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.62 | ZNF423 | Arina Puzriakova Publications for gene: ZNF423 were set to 22863007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.61 | ZNF423 | Arina Puzriakova commented on gene: ZNF423: There are now two unrelated families with homozygous variants and two cases with heterozygous variants in this gene associated with nephronophthisis or Joubert syndrome. Zfp423-mutant mice harbouring some variants (but not all - including one patient variant) displayed neuroanatomical abnormalities that were consistent with the human phenotype. Overall the evidence is borderline and therefore this gene will be flagged for GMS expert review to determine whether it should be upgraded to green at this stage. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.61 | ZNF423 | Arina Puzriakova Tag Q1_22_expert_review tag was added to gene: ZNF423. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.61 | ZNF423 | Arina Puzriakova reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.61 | DLG5 | Eleanor Williams commented on gene: DLG5: Changed the mode of inheritance to be inline with that recommended by the NHS reviewer. Removed the Q3_21_MOI and Q3_21_NHS_review tags. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.61 | DLG5 |
Eleanor Williams Tag Q3_21_MOI was removed from gene: DLG5. Tag Q3_21_NHS_review was removed from gene: DLG5. |
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Renal ciliopathies v1.61 | DLG5 | Eleanor Williams Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.60 | ISCA-37432-Loss | Arina Puzriakova commented on Region: ISCA-37432-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.60 | ISCA-37405-Loss | Arina Puzriakova commented on Region: ISCA-37405-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.60 | ISCA-37405-Loss |
Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181. Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30. Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60. |
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Renal ciliopathies v1.60 | ISCA-37432-Loss |
Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616. Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60. |
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Renal ciliopathies v1.59 | IFT140 |
Eleanor Williams Tag Q4_21_MOI was removed from gene: IFT140. Tag Q4_21_NHS_review was removed from gene: IFT140. |
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Renal ciliopathies v1.59 | IFT140 | Eleanor Williams commented on gene: IFT140: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.58 | IFT140 | Eleanor Williams Mode of inheritance for gene IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.57 | CENPF | Eleanor Williams Tag for-review was removed from gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.57 | DHCR7 | Eleanor Williams Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, OMIM:270400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.56 | DHCR7 | Eleanor Williams Tag for-review was removed from gene: DHCR7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.56 | CENPF | Eleanor Williams Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.55 | ARMC9 | Eleanor Williams Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.54 | ARMC9 | Eleanor Williams Tag for-review was removed from gene: ARMC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.54 | ALMS1 | Eleanor Williams Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | ALMS1 | Eleanor Williams Tag for-review was removed from gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | ICK | Eleanor Williams Tag for-review was removed from gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | DLG5 | Eleanor Williams Tag for-review was removed from gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | IFT140 | Eleanor Williams Tag for-review was removed from gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | IFT27 | Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996 to ?Bardet-Biedl syndrome 19, OMIM:615996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.52 | IFT27 | Eleanor Williams Tag for-review was removed from gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.52 | IFT172 | Eleanor Williams Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | IFT172 | Eleanor Williams Tag for-review was removed from gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | DHCR7 | Eleanor Williams commented on gene: DHCR7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | CENPF | Eleanor Williams commented on gene: CENPF: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | ARMC9 | Eleanor Williams commented on gene: ARMC9: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | ALMS1 | Eleanor Williams commented on gene: ALMS1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | ICK | Eleanor Williams commented on gene: ICK: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | DLG5 | Eleanor Williams commented on gene: DLG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | IFT140 | Eleanor Williams commented on gene: IFT140: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | IFT27 | Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | IFT172 | Eleanor Williams commented on gene: IFT172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.50 | ARMC9 |
Eleanor Williams Source Expert Review Red was added to ARMC9. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Renal ciliopathies v1.50 | DLG5 |
Eleanor Williams Source Expert Review Green was added to DLG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Renal ciliopathies v1.50 | IFT140 |
Eleanor Williams Source Expert Review Green was added to IFT140. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Renal ciliopathies v1.50 | IFT27 |
Eleanor Williams Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Renal ciliopathies v1.50 | IFT172 |
Eleanor Williams Source Expert Review Green was added to IFT172. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Renal ciliopathies v1.49 | CYS1 |
Zornitza Stark gene: CYS1 was added gene: CYS1 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYS1 were set to 34521872 Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642 Review for gene: CYS1 was set to AMBER Added comment: Single family reported. However, extensive experimental data, including mouse model. Sources: Literature |
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Renal ciliopathies v1.49 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.49 | XPNPEP3 | Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.49 | XPNPEP3 | Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.49 | XPNPEP3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.49 | XPNPEP3 | Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.48 | XPNPEP3 | Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.47 | XPNPEP3 | Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis; Ciliopathies; Nephronophthisis-like nephropathy 1, 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.46 | PDIA6 | Eleanor Williams commented on gene: PDIA6: Added this gene to this panel on advice from Genomics England clinical team. Rating amber as 1 case plus functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.46 | PDIA6 | Eleanor Williams Entity copied from Skeletal ciliopathies v1.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.46 | PDIA6 |
Eleanor Williams gene: PDIA6 was added gene: PDIA6 was added to Renal ciliopathies. Sources: Literature,Expert Review Amber 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 |
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Renal ciliopathies v1.45 | DLG5 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.45 | IFT140 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as biallelic for now, but with a recommendation that it should be updated to BOTH monoallelic and biallelic following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.45 | IFT140 | Eleanor Williams Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.44 | IFT140 | Eleanor Williams Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.43 | IFT140 | Eleanor Williams Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | IFT140 |
Eleanor Williams Tag Q4_21_MOI tag was added to gene: IFT140. Tag Q4_21_NHS_review tag was added to gene: IFT140. |
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Renal ciliopathies v1.42 | IFT140 | Eleanor Williams reviewed gene: IFT140: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | IFT140 | John Sayer reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.ajhg.2021.11.016; Phenotypes: Cystic kidney disease, cystic liver disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | DLG5 | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | DLG5 | Eleanor Williams Classified gene: DLG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | DLG5 | Eleanor Williams Added comment: Comment on list classification: Green review from Julia Baptista (Royal Devon and Exeter NHS Foundation Trust) suggesting mode of inheritance of both biallelic and monoallelic further supports promotion to green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.42 | DLG5 | Eleanor Williams Gene: dlg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.41 | XPNPEP3 | Zornitza Stark reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.41 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet Biedl syndrome 13; 268000; Bardet Biedl syndrome 1; Bardet Biedl syndrome 11 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.40 | DLG5 | Julia Baptista reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32631816; Phenotypes: Cystic kidneys, hydrocephalus, retinal abnormality, cleft palate, rhizomelic limb shortening; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.40 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.39 | ARMC9 | Eleanor Williams Classified gene: ARMC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.39 | ARMC9 | Eleanor Williams Added comment: Comment on list classification: Reverting this gene to green so that it is the same rating as the signed off version of this panel (v1.2). It should be reviewed at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.39 | ARMC9 | Eleanor Williams Gene: armc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.38 | ARMC9 | Eleanor Williams commented on gene: ARMC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.38 | DLG5 |
Eleanor Williams Tag for review was removed from gene: DLG5. Tag for-review tag was added to gene: DLG5. |
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Renal ciliopathies v1.38 | DLG5 | Eleanor Williams Classified gene: DLG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.38 | DLG5 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but it could be promoted to green following GMS review. 4 cases, 2 biallelic and 2 monoallelic so mode of inheritance should also be considered. Supportive mouse knockout model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.38 | DLG5 | Eleanor Williams Gene: dlg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.37 | DLG5 | Eleanor Williams Added comment: Comment on mode of inheritance: Note, 2 reported cases with biallelic variants, 2 with monoallelic. Mouse model was biallelic knockout | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.37 | DLG5 | Eleanor Williams Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.36 | DLG5 | Eleanor Williams Publications for gene: DLG5 were set to 32631816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.35 | DLG5 | Eleanor Williams Tag for review tag was added to gene: DLG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.35 | DLG5 | Eleanor Williams reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32631816, 17765678; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.35 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.34 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.33 | B9D2 | Arina Puzriakova commented on gene: B9D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.33 | B9D2 | Arina Puzriakova Publications for gene: B9D2 were set to 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes; 26092869 - two further cases with Joubert syndrome reported from two different families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.32 | B9D2 | Arina Puzriakova Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.31 | Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.30 | IFT172 | Arina Puzriakova Classified gene: IFT172 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.30 | IFT172 | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.30 | IFT172 | Arina Puzriakova Gene: ift172 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.29 | IFT140 | Arina Puzriakova Classified gene: IFT140 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.29 | IFT140 | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.29 | IFT140 | Arina Puzriakova Gene: ift140 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.28 | PIBF1 | Arina Puzriakova Publications for gene: PIBF1 were set to 26167768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Classified gene: PIBF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Added comment: Comment on list classification: Keeping rating Red, as renal manifestation only reported in a single patient - awaiting further publications/clinical evidence to ascertain the contribution of variants in PIBF1 to this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.27 | PIBF1 | Arina Puzriakova Gene: pibf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | PIBF1 | Arina Puzriakova reviewed gene: PIBF1: Rating: ; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | DLG5 |
Zornitza Stark gene: DLG5 was added gene: DLG5 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations Review for gene: DLG5 was set to GREEN gene: DLG5 was marked as current diagnostic Added comment: Four unrelated families reported, supportive Xenopus animal model data. Mutlisystem ciliopathy with prominent renal features. Sources: Literature |
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Renal ciliopathies v1.26 | IFT27 | Arina Puzriakova Tag for-review tag was added to gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | IFT27 | Arina Puzriakova Classified gene: IFT27 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | IFT27 | Arina Puzriakova Added comment: Comment on list classification: With the addition of the recent publication, there are now at least three unrelated cases reported with a renal phenotype, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.26 | IFT27 | Arina Puzriakova Gene: ift27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | IFT27 | Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | KIF14 | Eleanor Williams Tag watchlist tag was added to gene: KIF14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | KIF14 | Eleanor Williams commented on gene: KIF14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | ICK | Eleanor Williams Tag for-review tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | ICK | Eleanor Williams Tag watchlist tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | NEK1 | Eleanor Williams Classified gene: NEK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | NEK1 | Eleanor Williams Added comment: Comment on list classification: After discussion with the Genomics England clinical team it was decided to rate this gene amber as although there is a renal phenotype there is a more striking skeletal component and having this gene green may create extra noise in renal-only presentations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.25 | NEK1 | Eleanor Williams Gene: nek1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.24 | NEK1 | Eleanor Williams Tag watchlist tag was added to gene: NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.24 | NEK1 | Eleanor Williams Publications for gene: NEK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | NEK1 | Eleanor Williams edited their review of gene: NEK1: Changed publications: 21211617, 22499340, 25492405, 28123176; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | NEK1 | Eleanor Williams edited their review of gene: NEK1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | ICK |
Eleanor Williams edited their review of gene: ICK: Added comment: After discussion with the Genomics England clinical team it was decided this gene should be downgraded from green to amber at the next review. Evidence for a renal phenotype is borderline, with some evidence for an absence of a phenotype. PMID: 19185282 - 2 Amish families () have the same variant in ICK and 3 infants from these families showed cystically dilated tubules in both the medulla and the cortex of the kidney. PMID: 27069622 - 1 family is reported where a foetal scan showed large and hyperechogenic kidneys. PMID: 27466187 - reports a newborn with short rib polydactyly syndrome and a variant in ICK, but no renal phenotype. Two mouse knockout models (PMID: 24853502 and 24797473) also do not show a kidney phenotype.; Changed rating: AMBER; Changed publications: 19185282, 27069622, 27466187, 24853502, 24797473 |
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Renal ciliopathies v1.23 | HNF1B | Eleanor Williams commented on gene: HNF1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | DHCR7 | Eleanor Williams Tag for-review tag was added to gene: DHCR7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | CENPF | Eleanor Williams Tag for-review tag was added to gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | ALMS1 | Eleanor Williams Tag for-review tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | DHCR7 | Eleanor Williams reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | CENPF | Eleanor Williams reviewed gene: CENPF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | ALMS1 | Eleanor Williams reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | BBIP1 | Eleanor Williams Publications for gene: BBIP1 were set to 24026985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.22 | BBIP1 | Eleanor Williams Classified gene: BBIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.22 | BBIP1 | Eleanor Williams Added comment: Comment on list classification: Updating this gene from red to amber as an additional case has now been reported, bringing the total to 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.22 | BBIP1 | Eleanor Williams Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Classified gene: DCDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber as there are now two cases where Nephronophthisis has been reported in patients with biallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Gene: dcdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.20 | DCDC2 | Eleanor Williams Publications for gene: DCDC2 were set to 25557784 - in vitro/in vivo evidence; 22558177 - expression data for the transcriptome of ciliated cells; 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis; 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | DCDC2 |
Eleanor Williams commented on gene: DCDC2: Comments taken from the publications field before tidying up 25557784 - in vitro/in vivo evidence 22558177 - expression data for the transcriptome of ciliated cells 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) |
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Renal ciliopathies v1.19 | DCDC2 | Eleanor Williams changed review comment from: As Zornitza Stark has noted PMID: 31821705 - Slater et al 2020 provides a second case where nephronophthisis is noted.; to: As Zornitza Stark has noted PMID: 31821705 - Slater et al 2020 provides a second case where nephronophthisis is noted in a patient with a homozygous c.383C>G (p.S128*) nonsense pathogenic variant in exon 3 of the DCDC2 gene. Exome sequencing also showed variants of unknown clinical significance (VUS) in five other disease genes possibly related to the clinical phenotype. Parental samples were not available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | DCDC2 | Eleanor Williams reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | PDE6D | Eleanor Williams edited their review of gene: PDE6D: Changed rating: RED; Changed publications: 24166846, 30423442; Changed phenotypes: ?Joubert syndrome 22, 615665; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | PDE6D | Eleanor Williams commented on gene: PDE6D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | NEK1 | Eleanor Williams commented on gene: NEK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.19 | KIAA0556 | Eleanor Williams Publications for gene: KIAA0556 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.18 | KIAA0556 | Eleanor Williams Classified gene: KIAA0556 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.18 | KIAA0556 | Eleanor Williams Added comment: Comment on list classification: Although there is evidence in that this variants in this gene are associated with Jouberts Syndrome there does not seem to be a strong renal phenotype, so leaving this gene rated as red for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.18 | KIAA0556 | Eleanor Williams Gene: kiaa0556 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.17 | KIAA0556 | Eleanor Williams commented on gene: KIAA0556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.17 | IFT27 | Eleanor Williams commented on gene: IFT27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.17 | IFT27 | Eleanor Williams Publications for gene: IFT27 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.16 | IFT172 | Eleanor Williams Tag for-review tag was added to gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.16 | IFT140 | Eleanor Williams Tag for-review tag was added to gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.16 | ARMC9 | Eleanor Williams Tag for-review tag was added to gene: ARMC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.16 | KIF14 | Catherine Snow Classified gene: KIF14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.16 | KIF14 | Catherine Snow Gene: kif14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | DCDC2 |
Zornitza Stark edited their review of gene: DCDC2: Added comment: Two families with renal ciliopathy phenotype reported. PMID: 25557784 - a single case (1 hom PTC) with nephronophthisis. PMID: 31821705 - single report (1 hom PTC) with nephronophthisis with renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease. MRI did not indicate cerebellar atrophy or MTS; Changed rating: AMBER; Changed publications: 25557784, 31821705; Changed phenotypes: Nephronophthisis 19, MIM#616217 |
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Renal ciliopathies v1.15 | BBIP1 | Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | WDR60 | Catherine Snow Tag new-gene-name tag was added to gene: WDR60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | WDR60 | Catherine Snow commented on gene: WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | KIAA0556 | Catherine Snow Tag new-gene-name tag was added to gene: KIAA0556. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | KIAA0556 | Catherine Snow commented on gene: KIAA0556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Rated as Amber on advice from Helen Brittain: all of the cases are prenatal / peri-natal lethal so better suited to Fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.15 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.14 | CEP55 | Rebecca Foulger Publications for gene: CEP55 were set to 28295209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.13 | CEP55 |
Rebecca Foulger gene: CEP55 was added gene: CEP55 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28295209 Phenotypes for gene: CEP55 were set to Meckel-like syndrome; autosomal recessive lethal ciliopathy; renal dysplasia Review for gene: CEP55 was set to AMBER Added comment: Added CEP55 to renal ciliopathy panel as Amber after agreement from Helen Brittain, Genomics England Clinical Team. PMID:28295209 (Bondeson et al) report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplasia). Segregation analysis supported the gene:disease association, and haplotype analysis suggested a founder effect. The authors concluded the phenotype was consistent with an AR lethal ciliopathy. The lethal phenotype is similar to that reported in individuals in PMID:30622327 (Rawlins et al., 2019) and PMID:28264986 (Frosk et al, 2017). Sources: Literature |
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Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes.; to: PMID:30388224 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants in KIF14 and had phenotypes within the spectrum of fetal forms of ciliopathies, Meckel–Gruber syndrome (MKS) - (intrauterine growth restriction, cystic kidneys and brain developmental defects, including cerebellar hypoplasia and vermis agenesis) The paper also includes functional work on Zebrafish and reported that in vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 is relevant for this panel? |
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Renal ciliopathies v1.12 | KIF14 |
Catherine Snow changed review comment from: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system.; to: PMID:30388224 same authors as PMID: 24128419 identified two families and reported on two further families which had already previously been reported upon in PMID: 28566479. All fetuses had biallelic pathogenic variants. PMID: 28892560 - Reported on four individuals with variants in KIF14. 3/4 had no problems with renal system, 1/4 a German boy, was identified who had small kidneys with increased echogenicity. WES of the German patient revealed 2 compound heterozygous missense variants of KIF14. One of these variants (NM_014875.2;c.2545C>G;p.His849Asp) replaces a histidine by aspartic acid and is predicted to be disease causing. (NM_014875.2;c.3662G>T;p.Gly1221Val) introduces valine at a position of glycine that is not conserved among different animals. This variant affects the first nucleotide of exon 24, a position that might impair splicing. PMID: 29343805 - Biallelic Variants in KIF14 Cause Intellectual Disability With Microcephaly. 4 unrelated individuals identified but all asymptomatic in the Genitourinary system. Rating as Amber and requesting support from clinical team as unsure of KIF14 and its broad phenotypes. |
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Renal ciliopathies v1.12 | KIF14 | Catherine Snow reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30388224, 28892560, 29343805; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Classified gene: ARMC9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Added comment: Comment on list classification: ARMC9 appeared on the renal ciliopathies as it was imported from the Rare multisystem ciliopathy disorders panel version 1.86. Review from Zornitza Stark and also OMIM stating that ARMC9 has no hepatic or renal involvement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.12 | ARMC9 | Catherine Snow Gene: armc9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Classified gene: ADAMTS9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.11 | ADAMTS9 |
Catherine Snow Added comment: Comment on list classification: Choi et al (PMID: 30609407) identified two unrelated individuals with ADAMTS9 variants (c.4575_4576del [p.Gln1525Hisfs∗60] and c.194C>G [p.Thr65Arg]) that appear to cause a Nephronophthisis-related ciliopathies (NPHP-RC) The study also included functional work and knockdown of adamts9 in zebrafish recapitulated the NPHP-RC phenotypes. Rating as Amber as only two individuals, where some clinical features differed between the two cases and although functional evidence present it is currently limited to this publication. |
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Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Gene: adamts9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Classified gene: IFT140 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Gene: ift140 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Classified gene: IFT140 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.10 | IFT140 | Catherine Snow Gene: ift140 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.9 | SLC41A1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.9 | SLC41A1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.9 | IFT172 | Catherine Snow Classified gene: IFT172 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.9 | IFT172 |
Catherine Snow Added comment: Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy. Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel. |
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Renal ciliopathies v1.9 | IFT172 | Catherine Snow Gene: ift172 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.8 | IFT172 | Catherine Snow Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.7 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided 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. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided 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. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided 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. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited |
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Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.5 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Classified gene: SLC41A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.4 | SLC41A1 | Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.2 | Eleanor Williams Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ADAMTS9 |
Zornitza Stark gene: ADAMTS9 was added gene: ADAMTS9 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy Review for gene: ADAMTS9 was set to GREEN gene: ADAMTS9 was marked as current diagnostic Added comment: Two families reported with functional evidence Sources: Expert list |
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Renal ciliopathies v1.0 | SLC41A1 |
Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC41A1 were set to 23661805 Phenotypes for gene: SLC41A1 were set to Nephronophthisis Review for gene: SLC41A1 was set to RED Added comment: Single family reported, functional data. Sources: Expert list |
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Renal ciliopathies v1.0 | SCLT1 |
Zornitza Stark gene: SCLT1 was added gene: SCLT1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome Review for gene: SCLT1 was set to AMBER Added comment: Emerging ciliopathy gene, at least one report of renal involvement; mouse model recapitulates phenotype. Sources: Expert list |
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Renal ciliopathies v1.0 | PDE6D | Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome 22; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to Renal ciliopathies. Sources: Expert list 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, MIM# 263520 Review for gene: NEK1 was set to GREEN Added comment: A ciliopathy with a renal phenotype. Sources: Expert list |
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Renal ciliopathies v1.0 | KIF14 | Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388224; Phenotypes: Microcephaly, renal hypo/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | KIAA0556 | Zornitza Stark reviewed gene: KIAA0556: Rating: ; Mode of pathogenicity: None; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | IFT140 |
chirag patel gene: IFT140 was added gene: IFT140 was added to Renal ciliopathies. Sources: Expert Review Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353 Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) Review for gene: IFT140 was set to GREEN Added comment: Renal ciliopathy gene with phenotype of Mainzer-Saldino syndrome. Nephronophthisis reported in multiple cases, with functional evidence (Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype). Sources: Expert Review |
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Renal ciliopathies v1.0 | IFT27 | Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM# 615996; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN Added comment: Nephronophthisis is a recognised feature of this ciliopathy. Sources: Expert list |
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Renal ciliopathies v1.0 | ICK | Zornitza Stark reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: 19185282, 27069622; Phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | HNF1B | Zornitza Stark reviewed gene: HNF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | DHCR7 | chirag patel reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | CENPF | Zornitza Stark reviewed gene: CENPF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stromme syndrome, MIM# 243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ARMC9 | Zornitza Stark commented on gene: ARMC9: Gene not associated with a renal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ALMS1 | Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ARMC9 | Zornitza Stark edited their review of gene: ARMC9: Added comment: Specifically no renal phenotype described with this gene, plus this is a syndromic condition.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | PDE6D | Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ICK | Eleanor Williams commented on gene: ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ICK | Eleanor Williams Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v0.5 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v0.3 |
Eleanor Williams Panel status changed from internal to public Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel |
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Renal ciliopathies v0.1 | XPNPEP3 |
Eleanor Williams gene: XPNPEP3 was added gene: XPNPEP3 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Orphanet,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis; Ciliopathies; Nephronophthisis-like nephropathy 1, 613159 |
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Renal ciliopathies v0.1 | UMOD |
Eleanor Williams gene: UMOD was added gene: UMOD was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UMOD were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel |
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Renal ciliopathies v0.1 | TRIM32 |
Eleanor Williams gene: TRIM32 was added gene: TRIM32 was added to Renal 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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Renal ciliopathies v0.1 | SEC63 |
Eleanor Williams gene: SEC63 was added gene: SEC63 was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC63 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel |
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Renal ciliopathies v0.1 | PIBF1 |
Eleanor Williams gene: PIBF1 was added gene: PIBF1 was added to Renal ciliopathies. Sources: Research,Literature,Expert Review Red,Expert Review Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768 Phenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia |
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Renal ciliopathies v0.1 | PDE6D |
Eleanor Williams gene: PDE6D was added gene: PDE6D was added to Renal ciliopathies. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22; Joubert Syndrome and Senior-Loken Syndrome 24 gene panel; ?Joubert syndrome 22, 615665 |
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Renal ciliopathies v0.1 | MUC1 |
Eleanor Williams gene: MUC1 was added gene: MUC1 was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MUC1 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel |
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Renal ciliopathies v0.1 | KIF14 |
Eleanor Williams gene: KIF14 was added gene: KIF14 was added to Renal ciliopathies. Sources: Other,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Orphanet Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 24128419 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis |
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Renal ciliopathies v0.1 | KIAA0556 |
Eleanor Williams gene: KIAA0556 was added gene: KIAA0556 was added to Renal ciliopathies. Sources: Other,Expert Review Red Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0556 were set to ?Joubert syndrome 26 |
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Renal ciliopathies v0.1 | IFT74 |
Eleanor Williams gene: IFT74 was added gene: IFT74 was added to Renal 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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Renal ciliopathies v0.1 | EXOC8 |
Eleanor Williams gene: EXOC8 was added gene: EXOC8 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: EXOC8 was set to Publications for gene: EXOC8 were set to 22700954 Phenotypes for gene: EXOC8 were set to No OMIM phenotype; Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) |
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Renal ciliopathies v0.1 | EXOC3L2 |
Eleanor Williams gene: EXOC3L2 was added gene: EXOC3L2 was added to Renal ciliopathies. Sources: Expert list,Expert Review Red Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios |
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Renal ciliopathies v0.1 | DCDC2 |
Eleanor Williams gene: DCDC2 was added gene: DCDC2 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Orphanet Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25557784 - in vitro/in vivo evidence; 22558177 - expression data for the transcriptome of ciliated cells; 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis; 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) Phenotypes for gene: DCDC2 were set to Neonatal sclerosing cholangitis; Nephronophthisis 19, 616217 |
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Renal ciliopathies v0.1 | CCDC28B |
Eleanor Williams gene: CCDC28B was added gene: CCDC28B was added to Renal 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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Renal ciliopathies v0.1 | C8orf37 |
Eleanor Williams gene: C8orf37 was added gene: C8orf37 was added to Renal 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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Renal ciliopathies v0.1 | BBIP1 |
Eleanor Williams gene: BBIP1 was added gene: BBIP1 was added to Renal 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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Renal ciliopathies v0.1 | B9D1 |
Eleanor Williams gene: B9D1 was added gene: B9D1 was added to Renal 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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Renal ciliopathies v0.1 | ISCA-37432-Loss |
Eleanor Williams Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Renal ciliopathies. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Loss were set to Schizophrenia; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; delayed development, intellectual disability; 614527; RCAD syndrome; utero-vaginal atresia; Chromosome 17q12 deletion syndrome; Autism Spectrum Disorder; global developmental delay; Renal cysts and diabetes syndrome |
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Renal ciliopathies v0.1 | ISCA-37405-Loss |
Eleanor Williams Region: ISCA-37405-Loss was added Region: ISCA-37405-Loss was added to Renal ciliopathies. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37405-Loss were set to 8852662; 9856524; 15138899 Phenotypes for Region: ISCA-37405-Loss were set to 609583; juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900 |
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Renal ciliopathies v0.1 | WDR60 |
Eleanor Williams gene: WDR60 was added gene: WDR60 was added to Renal 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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Renal ciliopathies v0.1 | WDR35 |
Eleanor Williams gene: WDR35 was added gene: WDR35 was added to Renal 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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Renal ciliopathies v0.1 | WDR19 |
Eleanor Williams gene: WDR19 was added gene: WDR19 was added to Renal 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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Renal ciliopathies v0.1 | WDPCP |
Eleanor Williams gene: WDPCP was added gene: WDPCP was added to Renal 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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Renal ciliopathies v0.1 | TXNDC15 |
Eleanor Williams gene: TXNDC15 was added gene: TXNDC15 was added to Renal 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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Renal ciliopathies v0.1 | TTC8 |
Eleanor Williams gene: TTC8 was added gene: TTC8 was added to Renal 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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Renal ciliopathies v0.1 | TTC21B |
Eleanor Williams gene: TTC21B was added gene: TTC21B was added to Renal 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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Renal ciliopathies v0.1 | TRAF3IP1 |
Eleanor Williams gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Renal ciliopathies. Sources: Orphanet,Expert Review Green Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP1 were set to 26487268 Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 616629 |
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Renal ciliopathies v0.1 | TMEM67 |
Eleanor Williams gene: TMEM67 was added gene: TMEM67 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 20607301; PMID: 18327255 Phenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360 |
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Renal ciliopathies v0.1 | TMEM237 |
Eleanor Williams gene: TMEM237 was added gene: TMEM237 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 20301500 Phenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14 |
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Renal ciliopathies v0.1 | TMEM231 |
Eleanor Williams gene: TMEM231 was added gene: TMEM231 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 |
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Renal ciliopathies v0.1 | TMEM216 |
Eleanor Williams gene: TMEM216 was added gene: TMEM216 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 22282472; 20036350; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2 |
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Renal ciliopathies v0.1 | TMEM138 |
Eleanor Williams gene: TMEM138 was added gene: TMEM138 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM138 were set to 22282472 Phenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16 |
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Renal ciliopathies v0.1 | TMEM107 |
Eleanor Williams gene: TMEM107 was added gene: TMEM107 was added to Renal ciliopathies. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26518474; 26123494; 22698544; 26595381 Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 617562; ?Joubert syndrome 29 617562; Orofaciodigital syndrome XVI 617563 |
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Renal ciliopathies v0.1 | TCTN3 |
Eleanor Williams gene: TCTN3 was added gene: TCTN3 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 25118024; 22883145 Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV; Joubert syndrome 18; Meckel-Gruber; Mohr-Majewski syndrome |
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Renal ciliopathies v0.1 | TCTN2 |
Eleanor Williams gene: TCTN2 was added gene: TCTN2 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN2 were set to 25118024; 21565611 Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome |
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Renal ciliopathies v0.1 | TCTN1 |
Eleanor Williams gene: TCTN1 was added gene: TCTN1 was added to Renal ciliopathies. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893 Phenotypes for gene: TCTN1 were set to Joubert syndrome |
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Renal ciliopathies v0.1 | SDCCAG8 |
Eleanor Williams gene: SDCCAG8 was added gene: SDCCAG8 was added to Renal 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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Renal ciliopathies v0.1 | RPGRIP1L |
Eleanor Williams gene: RPGRIP1L was added gene: RPGRIP1L was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260 Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome |
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Renal ciliopathies v0.1 | PMM2 |
Eleanor Williams gene: PMM2 was added gene: PMM2 was added to Renal 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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Renal ciliopathies v0.1 | PKHD1 |
Eleanor Williams gene: PKHD1 was added gene: PKHD1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 |
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Renal ciliopathies v0.1 | PKD2 |
Eleanor Williams gene: PKD2 was added gene: PKD2 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2, 613095 |
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Renal ciliopathies v0.1 | PKD1 |
Eleanor Williams gene: PKD1 was added gene: PKD1 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PKD1 were set to 23624871; 20558538 Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD) |
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Renal ciliopathies v0.1 | OFD1 |
Eleanor Williams gene: OFD1 was added gene: OFD1 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OFD1 were set to 19800048; 22353940 Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I |
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Renal ciliopathies v0.1 | NPHP4 |
Eleanor Williams gene: NPHP4 was added gene: NPHP4 was added to Renal 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: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome; Nephronophthisis; Senior-Loken syndrome 4, 606996; Nephronophthisis 4, 606966 |
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Renal ciliopathies v0.1 | NPHP3 |
Eleanor Williams gene: NPHP3 was added gene: NPHP3 was added to Renal 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: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis |
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Renal ciliopathies v0.1 | NPHP1 |
Eleanor Williams gene: NPHP1 was added gene: NPHP1 was added to Renal 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: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444 Phenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis |
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Renal ciliopathies v0.1 | NEK8 |
Eleanor Williams gene: NEK8 was added gene: NEK8 was added to Renal 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: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800; 26967905; 26862157; 26697755; 23418306 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia; ?Renal-hepatic-pancreatic dysplasia 2, 615415; Nephronophthisis; ?Nephronophthisis 9, 613824 |
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Renal ciliopathies v0.1 | MKS1 |
Eleanor Williams gene: MKS1 was added gene: MKS1 was added to Renal 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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Renal ciliopathies v0.1 | MKKS |
Eleanor Williams gene: MKKS was added gene: MKKS was added to Renal 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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Renal ciliopathies v0.1 | MAPKBP1 |
Eleanor Williams gene: MAPKBP1 was added gene: MAPKBP1 was added to Renal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKBP1 were set to 28089251 Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20 617271 |
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Renal ciliopathies v0.1 | LZTFL1 |
Eleanor Williams gene: LZTFL1 was added gene: LZTFL1 was added to Renal 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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Renal ciliopathies v0.1 | KIF7 |
Eleanor Williams gene: KIF7 was added gene: KIF7 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990 |
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Renal ciliopathies v0.1 | KIAA0753 |
Eleanor Williams gene: KIAA0753 was added gene: KIAA0753 was added to Renal 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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Renal ciliopathies v0.1 | KIAA0586 |
Eleanor Williams gene: KIAA0586 was added gene: KIAA0586 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26096313 Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly |
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Renal ciliopathies v0.1 | IQCB1 |
Eleanor Williams gene: IQCB1 was added gene: IQCB1 was added to Renal 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: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254; Senior-Loken syndrome |
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Renal ciliopathies v0.1 | INVS |
Eleanor Williams gene: INVS was added gene: INVS was added to Renal 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: INVS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INVS were set to 12872123 Phenotypes for gene: INVS were set to Senior-Loken syndrome; Nephronophthisis 2, infantile, 602088; Nephronophthisis |
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Renal ciliopathies v0.1 | INPP5E |
Eleanor Williams gene: INPP5E was added gene: INPP5E was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1 |
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Renal ciliopathies v0.1 | IFT43 |
Eleanor Williams gene: IFT43 was added gene: IFT43 was added to Renal 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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Renal ciliopathies v0.1 | IFT122 |
Eleanor Williams gene: IFT122 was added gene: IFT122 was added to Renal 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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Renal ciliopathies v0.1 | ICK |
Eleanor Williams gene: ICK was added gene: ICK was added to Renal 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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Renal ciliopathies v0.1 | HYLS1 |
Eleanor Williams gene: HYLS1 was added gene: HYLS1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680 |
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Renal ciliopathies v0.1 | HNF1B |
Eleanor Williams gene: HNF1B was added gene: HNF1B was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1B were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel |
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Renal ciliopathies v0.1 | DYNC2H1 |
Eleanor Williams gene: DYNC2H1 was added gene: DYNC2H1 was added to Renal 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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Renal ciliopathies v0.1 | DHCR7 |
Eleanor Williams gene: DHCR7 was added gene: DHCR7 was added to Renal 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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Renal ciliopathies v0.1 | DDX59 |
Eleanor Williams gene: DDX59 was added gene: DDX59 was added to Renal 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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Renal ciliopathies v0.1 | CSPP1 |
Eleanor Williams gene: CSPP1 was added gene: CSPP1 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360807; 24360803; 24360808 Phenotypes for gene: CSPP1 were set to Joubert syndrome; Meckel syndrome; Joubert syndrome 21; Meckel-Gruber syndrome |
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Renal ciliopathies v0.1 | CRB2 |
Eleanor Williams gene: CRB2 was added gene: CRB2 was added to Renal ciliopathies. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730 |
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Renal ciliopathies v0.1 | CEP83 |
Eleanor Williams gene: CEP83 was added gene: CEP83 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18 615862 |
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Renal ciliopathies v0.1 | CEP41 |
Eleanor Williams gene: CEP41 was added gene: CEP41 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to Joubert syndrome 15 |
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Renal ciliopathies v0.1 | CEP290 |
Eleanor Williams gene: CEP290 was added gene: CEP290 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20690115; 18327255 Phenotypes for gene: CEP290 were set to 610189; Meckel syndrome 4; Senior-Loken syndrome; 611755; Joubert syndrome 5; Joubert syndrome with oculorenal defect; 610188; Senior-Loken syndrome 6; 611134; Meckel syndrome |
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Renal ciliopathies v0.1 | CEP164 |
Eleanor Williams gene: CEP164 was added gene: CEP164 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to ciliopathies; Nephronophthisis 15; Senior-Loken syndrome; Nephronophthisis 15, 614845 |
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Renal ciliopathies v0.1 | CEP104 |
Eleanor Williams gene: CEP104 was added gene: CEP104 was added to Renal ciliopathies. Sources: Other,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25 |
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Renal ciliopathies v0.1 | CENPF |
Eleanor Williams gene: CENPF was added gene: CENPF was added to Renal 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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Renal ciliopathies v0.1 | CC2D2A |
Eleanor Williams gene: CC2D2A was added gene: CC2D2A was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome |
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Renal ciliopathies v0.1 | C5orf42 |
Eleanor Williams gene: C5orf42 was added gene: C5orf42 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360 Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17 |
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Renal ciliopathies v0.1 | BBS9 |
Eleanor Williams gene: BBS9 was added gene: BBS9 was added to Renal 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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Renal ciliopathies v0.1 | BBS7 |
Eleanor Williams gene: BBS7 was added gene: BBS7 was added to Renal 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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Renal ciliopathies v0.1 | BBS5 |
Eleanor Williams gene: BBS5 was added gene: BBS5 was added to Renal 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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Renal ciliopathies v0.1 | BBS4 |
Eleanor Williams gene: BBS4 was added gene: BBS4 was added to Renal 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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Renal ciliopathies v0.1 | BBS2 |
Eleanor Williams gene: BBS2 was added gene: BBS2 was added to Renal 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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Renal ciliopathies v0.1 | BBS12 |
Eleanor Williams gene: BBS12 was added gene: BBS12 was added to Renal 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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Renal ciliopathies v0.1 | BBS10 |
Eleanor Williams gene: BBS10 was added gene: BBS10 was added to Renal 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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Renal ciliopathies v0.1 | BBS1 |
Eleanor Williams gene: BBS1 was added gene: BBS1 was added to Renal 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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Renal ciliopathies v0.1 | B9D2 |
Eleanor Williams gene: B9D2 was added gene: B9D2 was added to Renal 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: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes; 26092869 - two further cases with Joubert syndrome reported from two different families Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome |
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Renal ciliopathies v0.1 | ARMC9 |
Eleanor Williams gene: ARMC9 was added gene: ARMC9 was added to Renal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622 |
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Renal ciliopathies v0.1 | ARL6 |
Eleanor Williams gene: ARL6 was added gene: ARL6 was added to Renal 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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Renal ciliopathies v0.1 | ARL13B |
Eleanor Williams gene: ARL13B was added gene: ARL13B was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 25138100 Phenotypes for gene: ARL13B were set to Joubert syndrome 8 |
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Renal ciliopathies v0.1 | ANKS6 |
Eleanor Williams gene: ANKS6 was added gene: ANKS6 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis |
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Renal ciliopathies v0.1 | ALMS1 |
Eleanor Williams gene: ALMS1 was added gene: ALMS1 was added to Renal ciliopathies. Sources: Expert list,UKGTN,Eligibility statement prior genetic testing,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 22773737 Phenotypes for gene: ALMS1 were set to Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome |
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Renal ciliopathies v0.1 | AHI1 |
Eleanor Williams gene: AHI1 was added gene: AHI1 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3. |
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Renal ciliopathies v0.1 | ZNF423 |
Eleanor Williams gene: ZNF423 was added gene: ZNF423 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 |
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Renal ciliopathies v0.1 | IFT27 |
Eleanor Williams gene: IFT27 was added gene: IFT27 was added to Renal 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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Renal ciliopathies v0.1 | GLIS2 |
Eleanor Williams gene: GLIS2 was added gene: GLIS2 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149 Phenotypes for gene: GLIS2 were set to Nephronophthisis; NPHP; Nephronophthisis 7, 611498 |
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Renal ciliopathies v0.0 |
Eleanor Williams Added Panel Renal ciliopathies Set panel types to: GMS Rare Disease Virtual |