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