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Ophthalmological ciliopathies v5.22 TRAF3IP1 Ida Ertmanska Tag new-gene-name tag was added to gene: TRAF3IP1.
Ophthalmological ciliopathies v5.22 TRAF3IP1 Ida Ertmanska commented on gene: TRAF3IP1
Ophthalmological ciliopathies v5.22 CEP76 Ida Ertmanska Phenotypes for gene: CEP76 were changed from ciliopathy, MONDO:0005308 to ciliopathy, MONDO:0005308; Joubert syndrome, MONDO:0018772; Bardet-Biedl syndrome, MONDO:0015229
Ophthalmological ciliopathies v5.21 CEP76 Ida Ertmanska Added comment: Comment on phenotypes: This gene is not yet associated with a phenotype in OMIM - accessed 30th Mar 2026.
Ophthalmological ciliopathies v5.21 CEP76 Ida Ertmanska Phenotypes for gene: CEP76 were changed from to ciliopathy, MONDO:0005308
Ophthalmological ciliopathies v5.20 CEP76 Ida Ertmanska edited their review of gene: CEP76: Changed phenotypes to: ciliopathy, MONDO:0005308
Ophthalmological ciliopathies v5.20 CEP76 Ida Ertmanska changed review comment from: PMID: 41105778 Khan et al., 2025
Report of 8 patients with biallelic variants in CEP76 and syndromic ciliopathy diagnosis, presenting with neurodevelopmental, ocular, and variable additional multisystem features.
Eye abnormalities were the most common feature in the cohort (7/8), including childhood-onset retinal degeneration, oculomotor apraxia, and nystagmus - 3 patients diagnosed with Joubert syndrome and 1 with Bardet-Biedl Syndrome. Neuroanatomical anomalies were seen in 5/8 patients - molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Muscular hypotonia was seen in 4/8 patients, ID/DD in 3/8, obesity in 3/8.

Functional evidence: Proband-derived fibroblasts and CEP76-depleted RPE1 cells display ciliary deficits. Zebrafish cep76 mutants recapitulate key clinical phenotypes: retinal degeneration and visual function deficits, diminished locomotor activity
Sources: Literature; to: PMID: 41105778 Khan et al., 2025
Report of 8 patients with biallelic variants in CEP76 and syndromic ciliopathy diagnosis, presenting with neurodevelopmental, ocular, and variable additional multisystem features.
Eye abnormalities were the most common feature in the cohort (7/8), including childhood-onset retinal degeneration, oculomotor apraxia, and nystagmus - 3 patients diagnosed with Joubert syndrome and 1 with Bardet-Biedl Syndrome. Neuroanatomical anomalies were seen in 5/8 patients - molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Muscular hypotonia was seen in 4/8 patients, ID/DD in 3/8, obesity in 3/8.

Functional evidence: Proband-derived fibroblasts and CEP76-depleted RPE1 cells display ciliary deficits. Zebrafish cep76 mutants recapitulate key clinical phenotypes: retinal degeneration and visual function deficits, diminished locomotor activity
Sources: Literature
Ophthalmological ciliopathies v5.20 CEP76 Ida Ertmanska Classified gene: CEP76 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.20 CEP76 Ida Ertmanska Added comment: Comment on list classification: There are 8 unrelated patients reported in literature with biallelic CEP76 variants and syndromic ciliopathy, with prevalent ocular and neurodevelopmental features. Functional evidence shows that cep76 knockout in zebrafish results in retinal degeneration. Based on available evidence, this gene should be promoted to Green for Ophthalmological ciliopathies.
Ophthalmological ciliopathies v5.20 CEP76 Ida Ertmanska Gene: cep76 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.19 CEP76 Ida Ertmanska gene: CEP76 was added
gene: CEP76 was added to Ophthalmological ciliopathies. Sources: Literature
Q1_26_promote_green tags were added to gene: CEP76.
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP76 were set to 41105778
Review for gene: CEP76 was set to GREEN
Added comment: PMID: 41105778 Khan et al., 2025
Report of 8 patients with biallelic variants in CEP76 and syndromic ciliopathy diagnosis, presenting with neurodevelopmental, ocular, and variable additional multisystem features.
Eye abnormalities were the most common feature in the cohort (7/8), including childhood-onset retinal degeneration, oculomotor apraxia, and nystagmus - 3 patients diagnosed with Joubert syndrome and 1 with Bardet-Biedl Syndrome. Neuroanatomical anomalies were seen in 5/8 patients - molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Muscular hypotonia was seen in 4/8 patients, ID/DD in 3/8, obesity in 3/8.

Functional evidence: Proband-derived fibroblasts and CEP76-depleted RPE1 cells display ciliary deficits. Zebrafish cep76 mutants recapitulate key clinical phenotypes: retinal degeneration and visual function deficits, diminished locomotor activity
Sources: Literature
Ophthalmological ciliopathies v5.18 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from ?Bardet-Biedl syndrome 18, 615995 to Bardet-Biedl syndrome 18, OMIM:615995
Ophthalmological ciliopathies v5.17 BBIP1 Ida Ertmanska Publications for gene: BBIP1 were set to 24026985
Ophthalmological ciliopathies v5.16 BBIP1 Ida Ertmanska Classified gene: BBIP1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.16 BBIP1 Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported in literature with biallelic BBIP1 variants and Bardet-Biedl syndrome. Retinal degeneration was confirmed in 2 unrelated patients. Moreover, zebrafish bbip1 knockdown resulted in a ciliopathy phenotype, including abnormal retinal development. Hence, this gene should be promoted to Green at the next update.
Ophthalmological ciliopathies v5.16 BBIP1 Ida Ertmanska Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.15 BBIP1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: BBIP1.
Ophthalmological ciliopathies v5.15 BBIP1 Ida Ertmanska reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24026985, 32055034, 37239474; Phenotypes: Bardet-Biedl syndrome 18, OMIM:615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v5.15 TMEM218 Arina Puzriakova Tag gene-checked was removed from gene: TMEM218.
Ophthalmological ciliopathies v5.15 POC5 Arina Puzriakova Tag gene-checked tag was added to gene: POC5.
Ophthalmological ciliopathies v5.15 KIAA0556 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: KIAA0556.
Ophthalmological ciliopathies v5.15 POC5 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: POC5.
Ophthalmological ciliopathies v5.15 POC5 Ida Ertmanska reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v5.15 KIAA0556 Ida Ertmanska reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v5.14 POC5 Ida Ertmanska Source Expert Review Green was added to POC5.
Source NHS GMS was added to POC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v5.14 KIAA0556 Ida Ertmanska Source Expert Review Green was added to KIAA0556.
Source NHS GMS was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Classified gene: MDM1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 5 unrelated cases with retinal dystrophy due to biallelic variants in this gene. Localisation in cilia indicate that MDM1 variants are associated with a first-order ciliopathy.
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Gene: mdm1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: MDM1.
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova Entity copied from Retinal disorders v8.87
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova gene: MDM1 was added
gene: MDM1 was added to Ophthalmological ciliopathies. Sources: Literature
new-gene-name tags were added to gene: MDM1.
Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDM1 were set to 41742423
Phenotypes for gene: MDM1 were set to Retinal dystrophy, HP:0000556
Penetrance for gene: MDM1 were set to unknown
Mode of pathogenicity for gene: MDM1 was set to Other
Ophthalmological ciliopathies v5.10 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Ophthalmological ciliopathies v5.10 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome, MONDO:0015375 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Ophthalmological ciliopathies v5.9 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Ophthalmological ciliopathies v5.9 LRRC45 Ida Ertmanska changed review comment from: Comment on list classification: There are 5 individuals from 4 unrelated families with biallelic variants in LRRC45. 2/5 individuals were noted to have an ophthalmological phenotype: isolated cone-rod dystrophy, and nystagmus as part of a syndromic presentation (PMIDs: 34716235; 39638757). Another individual was diagnosed with Bardet-Biedl syndrome-like multi-systemic ciliopathy - often associated with ocular findings, though not specified in the report (PMID: 34716235).; to: Comment on list classification: There are 5 individuals from 4 unrelated families with biallelic variants in LRRC45. 2/5 individuals were noted to have an ophthalmological phenotype: isolated cone-rod dystrophy, and nystagmus as part of a syndromic presentation (PMIDs: 34716235; 39638757). Another individual was diagnosed with Bardet-Biedl syndrome-like multi-systemic ciliopathy - often associated with ocular findings, though not specified in the report (PMID: 34716235). Based on the available evidence, this gene should be rated Amber for Ophthalmological ciliopathies until more evidence emerges.
Ophthalmological ciliopathies v5.9 LRRC45 Ida Ertmanska commented on gene: LRRC45: Comment on list classification: There are 5 individuals from 4 unrelated families with biallelic variants in LRRC45. 2/5 individuals were noted to have an ophthalmological phenotype: isolated cone-rod dystrophy, and nystagmus as part of a syndromic presentation (PMIDs: 34716235; 39638757). Another individual was diagnosed with Bardet-Biedl syndrome-like multi-systemic ciliopathy - often associated with ocular findings, though not specified in the report (PMID: 34716235).
Ophthalmological ciliopathies v5.9 LRRC45 Ida Ertmanska Classified gene: LRRC45 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.9 LRRC45 Ida Ertmanska Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.8 LRRC45 Ida Ertmanska gene: LRRC45 was added
gene: LRRC45 was added to Ophthalmological ciliopathies. Sources: Literature
Mode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC45 were set to 30131441; 34716235; 39638757
Phenotypes for gene: LRRC45 were set to ciliopathy, MONDO:0005308; Abnormal brain morphology, HP:0012443; neurodevelopmental disorder, MONDO:0700092
Review for gene: LRRC45 was set to AMBER
Added comment: PMID: 34716235 Best et al., 2022
2 unrelated individuals with LP biallelic variants in LRRC45.
Proband 1 (CMC Patient 48): Bardet-Biedl syndrome-like multi-systemic ciliopathy - homozygous for NM_144999.4: c.1074_1075insTG, p.(Leu359CysfsTer19), also homozygous for CFAP45 (CCDC19) NM_012337.3: c.433C>T, p.(Arg145Ter).
Sibling with developmental delay and ID was homozygous for the LRRC45 variant, did not harbour the CFAP45 mutation (proposed to account for the ciliopathy phenotype); parents confirmed as het for each.
Proband 2: presented with cone-rod dystrophy (possible ciliopathy basis) - compound het: NM_144999.4: c.1A>T, p.Met1? & NM_144999.4: c.1126–1G>A. Singleton case.

PMID: 39638757 Radhakrishnan et al., 2025
Report of 3 individuals from 2 unrelated families with severe central nervous system anomalies, harbouring biallelic variants in LRRC45: P1: c.1402-2A>G; P2 and P3: c.1262G>C (p.Arg421Thr). Method: Exome seq.
P1 - female, onset at 1yr 8months, Indian origin, presented with febrile seizures and developmental delay, severe brain anomalies. At 3yr 7 mo: titubation, nystagmus, axial and peripheral hypotonia, normal deep tendon reflexes and pes planus.
P2 & 3 - born to Turkish consanguineous parents; P2 - female, presented with severe muscular hypotonia, respiratory insufficiency, and apnea bradycardia syndrome; ophthalmological exam was normal; patient died at 3 months old. P3 - male fetus, pregnancy terminated.
Functional evidence - P1 fibroblasts - variant c.1402-2A>G shown to result in a transcript lacking exon 14 (total 17 exons); LRRC45 mRNA and protein levels significantly reduced; significant reduction of primary cilia frequency and length.
c.1402-2A>G - splice acceptor - MAF 0.0001647 (South Asian population, 14 heterozygotes - gnomAD v4.1).
c.1262G>C (p.Arg421Thr) - MAF 8.475e-7 (1 het in European pop - gnomAD v4.1); Revel score =
Uncertain (0.31).

Functional evidence:
PMID: 30131441 Kurtulmus et al., 2018 - LRRC45 shown to be associated with the basal body of primary and motile cilia in both differentiated and stem cells - broad function in ciliogenesis.

This gene is not yet associated with a disease in OMIM (accessed 11th Nov 2025).
Sources: Literature
Ophthalmological ciliopathies v5.7 KIAA0556 Arina Puzriakova Phenotypes for gene: KIAA0556 were changed from ?Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Ophthalmological ciliopathies v5.6 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to
Ophthalmological ciliopathies v5.5 KIAA0556 Arina Puzriakova Classified gene: KIAA0556 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.5 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Following consultation with the Genomics England Clinical Team, it has been decided that there is sufficient evidence to make this gene Green on this panel -ocular presentations, although varied, are consistent with the range seen in ciliopathies.
Ophthalmological ciliopathies v5.5 KIAA0556 Arina Puzriakova Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.4 KIAA0556 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Ophthalmological ciliopathies v5.4 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v5.4 IFT27 Arina Puzriakova Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996 to Bardet-Biedl syndrome 19, OMIM:615996
Ophthalmological ciliopathies v5.3 POC5 Arina Puzriakova changed review comment from: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.
Sources: Literature; to: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.
Sources: Literature
Ophthalmological ciliopathies v5.3 POC5 Arina Puzriakova Classified gene: POC5 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.3 POC5 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. This disorder is also relevant to the R27 Paediatric disorders superpanel, which will be added through inclusion on the Ophthalmological ciliopathies panel.
Ophthalmological ciliopathies v5.3 POC5 Arina Puzriakova Gene: poc5 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v5.2 POC5 Arina Puzriakova gene: POC5 was added
gene: POC5 was added to Ophthalmological ciliopathies. Sources: Literature
Q3_25_promote_green tags were added to gene: POC5.
Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 29272404; 40590205
Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology
Review for gene: POC5 was set to GREEN
Added comment: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.
Sources: Literature
Ophthalmological ciliopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2025-04-30
Ophthalmological ciliopathies v5.0 Eleanor Williams promoted panel to version 5.0
Ophthalmological ciliopathies v4.8 FAM149B1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAM149B1.
Ophthalmological ciliopathies v4.8 FAM149B1 Sarah Leigh Source Expert Review Green was added to FAM149B1.
Source NHS GMS was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v4.7 FAM149B1 Sarah Leigh reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v4.6 Arina Puzriakova Panel version 4.5 has been signed off on 2024-10-30
Ophthalmological ciliopathies v4.5 Eleanor Williams Panel version 4.4 has been signed off on 2024-08-07
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update.
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 3482825
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Changed publications to: 34828254
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram changed review comment from: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; to: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).

This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; Changed rating: GREEN; Changed publications to: 3482825; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v4.1 Eleanor Williams Panel version 4.0 has been signed off on 2024-05-01
Ophthalmological ciliopathies v4.0 Eleanor Williams promoted panel to version 4.0
Ophthalmological ciliopathies v3.7 CENPF Arina Puzriakova 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
Ophthalmological ciliopathies v3.6 GLI3 Arina Puzriakova Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510
Ophthalmological ciliopathies v3.3 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Ophthalmological ciliopathies v3.3 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Ophthalmological ciliopathies v3.3 SUFU Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: SUFU.
Tag Q4_22_MOI was removed from gene: SUFU.
Tag Q4_22_promote_green was removed from gene: SUFU.
Tag Q4_22_expert_review was removed from gene: SUFU.
Ophthalmological ciliopathies v3.3 SUFU Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ophthalmological ciliopathies v3.2 SUFU Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU.
Source NHS GMS was added to SUFU.
Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v3.1 SUFU Arina Puzriakova Tag Q4_22_expert_review tag was added to gene: SUFU.
Ophthalmological ciliopathies v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22
Ophthalmological ciliopathies v3.0 Eleanor Williams promoted panel to version 3.0
Ophthalmological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054
Ophthalmological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682
Ophthalmological ciliopathies v2.6 TBC1D32 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: TBC1D32.
Ophthalmological ciliopathies v2.6 LAMA1 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: LAMA1.
Tag Q3_21_expert_review was removed from gene: LAMA1.
Ophthalmological ciliopathies v2.6 ARL3 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: ARL3.
Ophthalmological ciliopathies v2.6 TBC1D32 Achchuthan Shanmugasundram reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v2.6 ARL3 Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v2.6 LAMA1 Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v2.5 TBC1D32 Achchuthan Shanmugasundram Source Expert Review Green was added to TBC1D32.
Source NHS GMS was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v2.5 LAMA1 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMA1.
Source NHS GMS was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v2.5 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Source NHS GMS was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v2.4 SUFU Arina Puzriakova Publications for gene: SUFU were set to 28965847
Ophthalmological ciliopathies v2.3 SUFU Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence)
Ophthalmological ciliopathies v2.3 SUFU Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update under a MONOALLELIC inheritance pattern only, unless the NHS GMS working group disagree and feel the MOI should include both mono- and biallelic variants based on the current evidence.
Ophthalmological ciliopathies v2.3 SUFU Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v2.2 SUFU Arina Puzriakova Added comment: Comment on mode of inheritance: Following consultation with Helen Brittain (Genomics England Clinical team) it was decided that based on the current evidence the MOI should be set to 'monoallelic' only for now but with a 'watchlist' tag to monitor for additional biallelic cases relating to a Joubert-like presentation.
Ophthalmological ciliopathies v2.2 SUFU Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ophthalmological ciliopathies v2.1 SUFU Arina Puzriakova Tag watchlist_moi tag was added to gene: SUFU.
Tag Q4_22_MOI tag was added to gene: SUFU.
Tag Q4_22_promote_green tag was added to gene: SUFU.
Ophthalmological ciliopathies v2.1 SUFU Arina Puzriakova reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 21289193, 28965847, 33024317, 34675124; Phenotypes: Joubert syndrome 32, OMIM:617757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ophthalmological ciliopathies v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Ophthalmological ciliopathies v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Ophthalmological ciliopathies v1.32 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757
Ophthalmological ciliopathies v1.31 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Ophthalmological ciliopathies v1.30 C8orf37 Arina Puzriakova commented on gene: C8orf37
Ophthalmological ciliopathies v1.30 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Ophthalmological ciliopathies v1.30 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Ophthalmological ciliopathies v1.30 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Ophthalmological ciliopathies v1.30 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Ophthalmological ciliopathies v1.30 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
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.28 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Tag for-review was removed from gene: C8orf37.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong commented on gene: C8orf37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong commented on gene: IFT27
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Source Expert Review Green was added to C8orf37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.26 TMEM218 Ivone Leong Entity copied from Neurological ciliopathies v1.24
Ophthalmological ciliopathies v1.26 TMEM218 Ivone Leong gene: TMEM218 was added
gene: TMEM218 was added to Ophthalmological ciliopathies. Sources: Literature,Expert Review Amber
Q4_21_rating, Q4_21_NHS_review tags were added to gene: TMEM218.
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
Ophthalmological ciliopathies v1.25 TBC1D32 Ivone Leong Tag Q3_21_rating tag was added to gene: TBC1D32.
Ophthalmological ciliopathies v1.25 TBC1D32 Ivone Leong Phenotypes for gene: TBC1D32 were changed from No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) to Orofaciodigital syndrome, MONDO:0015375
Ophthalmological ciliopathies v1.24 TBC1D32 Ivone Leong Publications for gene: TBC1D32 were set to
Ophthalmological ciliopathies v1.23 TBC1D32 Ivone Leong Classified gene: TBC1D32 as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.23 TBC1D32 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with Ciliopathy syndrome in Gene2Phenotype (possible) but not a phenotype in OMIM. There is enough evidence for this gene to be Green.

Green review from Rhiannon Mellis (Great Ormond Street Hospital) on the Rare multisystem ciliopathy disorders panel (ID: 150):

"The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:

- One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs
- The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet

- There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly
Created: 6 Oct 2020, 3:14 p.m. | Last Modified: 6 Oct 2020, 3:14 p.m.
Panel Version: 1.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OFD IX

Publications

PMID: 32573025
31130284
32060556"
Ophthalmological ciliopathies v1.23 TBC1D32 Ivone Leong Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.22 ARL3 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from Biallelic to Both monoallelic and biallelic as eye phenotype is seen for both MOIs.
Ophthalmological ciliopathies v1.22 ARL3 Ivone Leong Mode of inheritance for gene: ARL3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ophthalmological ciliopathies v1.21 ARL3 Ivone Leong Phenotypes for gene: ARL3 were changed from Joubert syndrome 35, OMIM:61816 to Joubert syndrome 35, OMIM:61816; cone-rod dystrophy, MONDO:0015993; Retinitis pigmentosa 83, OMIM:618173
Ophthalmological ciliopathies v1.20 ARL3 Ivone Leong Tag watchlist was removed from gene: ARL3.
Tag Q4_21_rating tag was added to gene: ARL3.
Ophthalmological ciliopathies v1.20 ARL3 Ivone Leong Entity copied from Neurological ciliopathies v1.20
Ophthalmological ciliopathies v1.20 ARL3 Ivone Leong gene: ARL3 was added
gene: ARL3 was added to Ophthalmological ciliopathies. Sources: Expert list,Expert Review Amber
watchlist tags were added to gene: ARL3.
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502; 33748123; 31743939; 26964041; 30932721; 34485303
Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:61816
Ophthalmological ciliopathies v1.19 LAMA1 Arina Puzriakova Classified gene: LAMA1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.19 LAMA1 Arina Puzriakova Added comment: Comment on list classification: Clinical features of Poretti-Boltshauser syndrome resemble Joubert syndrome which can lead to misdiagnosis. Although not a ciliopathy per se, inclusion on ciliopathy panels may be warranted to enable differential diagnosis. The LAMA1 gene will be flagged for GMS specialist review to determine whether it is appropriate to include this gene on this panel.
Ophthalmological ciliopathies v1.19 LAMA1 Arina Puzriakova Gene: lama1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.18 LAMA1 Arina Puzriakova Tag Q3_21_rating tag was added to gene: LAMA1.
Tag Q3_21_expert_review tag was added to gene: LAMA1.
Ophthalmological ciliopathies v1.18 LAMA1 Arina Puzriakova Entity copied from Rare multisystem ciliopathy disorders v1.146
Ophthalmological ciliopathies v1.18 LAMA1 Arina Puzriakova gene: LAMA1 was added
gene: LAMA1 was added to Ophthalmological ciliopathies. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 25105227; 34423300
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Penetrance for gene: LAMA1 were set to Complete
Ophthalmological ciliopathies v1.17 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
Ophthalmological ciliopathies v1.16 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
Ophthalmological ciliopathies v1.15 IFT74 Ivone Leong Publications for gene: IFT74 were set to 27486776
Ophthalmological ciliopathies v1.14 IFT74 Ivone Leong Classified gene: IFT74 as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.14 IFT74 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 32144365 is the second case for this gene. Taken together there are 2 cases and an animal model. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review.
Ophthalmological ciliopathies v1.14 IFT74 Ivone Leong Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.13 IFT74 Ivone Leong Tag for-review tag was added to gene: IFT74.
Ophthalmological ciliopathies v1.13 C8orf37 Ivone Leong Classified gene: C8orf37 as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.13 C8orf37 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Ophthalmological ciliopathies v1.13 C8orf37 Ivone Leong Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.12 C8orf37 Ivone Leong Tag for-review tag was added to gene: C8orf37.
Ophthalmological ciliopathies v1.12 C8orf37 Ivone Leong Publications for gene: C8orf37 were set to 26854863; 27008867
Ophthalmological ciliopathies v1.11 C8orf37 Ivone Leong Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406 to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Ophthalmological ciliopathies v1.10 KIF3B Ivone Leong Classified gene: KIF3B as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.10 KIF3B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Ophthalmological ciliopathies v1.10 KIF3B Ivone Leong Gene: kif3b has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.9 KIF3B Ivone Leong Tag watchlist tag was added to gene: KIF3B.
Ophthalmological ciliopathies v1.9 KIF3B Ivone Leong Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly
Ophthalmological ciliopathies v1.8 PIBF1 Arina Puzriakova Classified gene: PIBF1 as Red List (low evidence)
Ophthalmological ciliopathies v1.8 PIBF1 Arina Puzriakova Added comment: Comment on list classification: Keeping rating Red as ophthalmological phenotype has been absent from all cases reported to date.
Ophthalmological ciliopathies v1.8 PIBF1 Arina Puzriakova Gene: pibf1 has been classified as Red List (Low Evidence).
Ophthalmological ciliopathies v1.7 PIBF1 Arina Puzriakova Publications for gene: PIBF1 were set to 26167768
Ophthalmological ciliopathies v1.6 PIBF1 Arina Puzriakova reviewed gene: PIBF1: Rating: ; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: None
Ophthalmological ciliopathies v1.6 IFT27 Arina Puzriakova Publications for gene: IFT27 were set to
Ophthalmological ciliopathies v1.5 IFT27 Arina Puzriakova Classified gene: IFT27 as Amber List (moderate evidence)
Ophthalmological ciliopathies v1.5 IFT27 Arina Puzriakova Added comment: Comment on list classification: With the addition of recent publications, there are now at least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.
Ophthalmological ciliopathies v1.5 IFT27 Arina Puzriakova Gene: ift27 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v1.4 IFT27 Arina Puzriakova Tag for-review tag was added to gene: IFT27.
Ophthalmological ciliopathies v1.4 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v1.4 KIF3B Zornitza Stark gene: KIF3B was added
gene: KIF3B was added to Ophthalmological ciliopathies. Sources: Literature
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: Two unrelated families with a ciliopathy phenotype including RP and some functional data.
Sources: Literature
Ophthalmological ciliopathies v1.4 C8orf37 Zornitza Stark reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: None; Publications: 27008867, 26854863, 22177090, 25113443, 2686542625802487; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16 614500, Retinitis pigmentosa 64 614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ophthalmological ciliopathies v1.4 KIAA0556 Catherine Snow Tag new-gene-name tag was added to gene: KIAA0556.
Ophthalmological ciliopathies v1.4 KIAA0556 Catherine Snow commented on gene: KIAA0556
Ophthalmological ciliopathies v1.4 Sarah Leigh Panel version has been signed off
Ophthalmological ciliopathies v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Ophthalmological ciliopathies v1.0 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Ophthalmological ciliopathies v1.0 C21orf2 Louise Daugherty commented on gene: C21orf2
Ophthalmological ciliopathies v1.0 Rebecca Foulger promoted panel to version 1.0
Ophthalmological ciliopathies v0.13 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Ophthalmological ciliopathies v0.11 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
Ophthalmological ciliopathies v0.11 FAM149B1 Eleanor Williams Classified gene: FAM149B1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v0.11 FAM149B1 Eleanor Williams Added comment: Comment on list classification: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.
Ophthalmological ciliopathies v0.11 FAM149B1 Eleanor Williams Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v0.10 FAM149B1 Eleanor Williams gene: FAM149B1 was added
gene: FAM149B1 was added to Ophthalmological ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome; oral-facial-digital syndrome; OFD VI
Review for gene: FAM149B1 was set to AMBER
Added comment: PMID: 30905400 - Shaheen et al 2019 - report 4 cases in which homozygous variants in the FAM149B1 gene are found in patients with a ciliopathy phenotype that most closely matches Joubert syndrome or Joubert syndrome/oral-facial-digital syndrome (OFD VI) . 3 of the cases in Consanguinity families of Arab origin have the same c.356_357del (p.Lys119Ilefs∗18) variant and haplotype analysis suggests a founder mutation. The fourth case in a Turkish family with Joubert syndrome was found to have a different homozygous truncating variant in the same gene (c.439C>T [p.Gln147∗])). Both variants are predicted to result in truncated proteins.
Functional studies - FAM149B1 encodes a protein of unknown function and mutant fibroblasts were found to have normal ciliogenesis potential. But some cilia-related abnormalities were observed in these cells: abnormal accumulation IFT complex at the distal tips of the cilia, which assumed bulbous appearance, increased length of the primary cilium, and dysregulated SHH signaling.
Sources: Literature
Ophthalmological ciliopathies v0.9 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Ophthalmological ciliopathies v0.7 Ellen McDonagh Panel status changed from internal to public
Ophthalmological ciliopathies v0.5 SUFU Ivone Leong gene: SUFU was added
gene: SUFU was added to Ophthalmological ciliopathies. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUFU were set to 28965847
Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757
Ophthalmological ciliopathies v0.3 ZNF423 Ivone Leong gene: ZNF423 was added
gene: ZNF423 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.3 POC1B Ivone Leong gene: POC1B was added
gene: POC1B was added to Ophthalmological ciliopathies. Sources: UKGTN,Expert list,Expert Review Amber
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1B were set to 29377742; 25044745; 29220607; 25018096; 24945461
Phenotypes for gene: POC1B were set to Senior-Loken Syndrome 24 gene panel; Cone-rod dystrophy 20 615973; Joubert Syndrome; AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Ophthalmological ciliopathies v0.3 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TULP1 Ivone Leong gene: TULP1 was added
gene: TULP1 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132; Leber congenital amaurosis 15, 613843; Ciliopathies
Ophthalmological ciliopathies v0.1 TRIM32 Ivone Leong gene: TRIM32 was added
gene: TRIM32 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TOPORS Ivone Leong gene: TOPORS was added
gene: TOPORS was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Ciliopathies
Ophthalmological ciliopathies v0.1 TBC1D32 Ivone Leong gene: TBC1D32 was added
gene: TBC1D32 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Ophthalmological ciliopathies v0.1 SPATA7 Ivone Leong gene: SPATA7 was added
gene: SPATA7 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232; Ciliopathies; Retinitis pigmentosa, juvenile, autosomal recessive, 604232
Ophthalmological ciliopathies v0.1 RPGRIP1 Ivone Leong gene: RPGRIP1 was added
gene: RPGRIP1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Orphanet,Expert Review Red
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Meckel syndrome; Ciliopathies
Ophthalmological ciliopathies v0.1 RPE65 Ivone Leong gene: RPE65 was added
gene: RPE65 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 RDH12 Ivone Leong gene: RDH12 was added
gene: RDH12 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 RD3 Ivone Leong gene: RD3 was added
gene: RD3 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 PIBF1 Ivone Leong gene: PIBF1 was added
gene: PIBF1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 LRAT Ivone Leong gene: LRAT was added
gene: LRAT was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Ciliopathies
Ophthalmological ciliopathies v0.1 LCA5 Ivone Leong gene: LCA5 was added
gene: LCA5 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537; Ciliopathies
Ophthalmological ciliopathies v0.1 KIAA0556 Ivone Leong gene: KIAA0556 was added
gene: KIAA0556 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 KCNJ13 Ivone Leong gene: KCNJ13 was added
gene: KCNJ13 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 IMPDH1 Ivone Leong gene: IMPDH1 was added
gene: IMPDH1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 IFT74 Ivone Leong gene: IFT74 was added
gene: IFT74 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 GUCY2D Ivone Leong gene: GUCY2D was added
gene: GUCY2D was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Ciliopathies
Ophthalmological ciliopathies v0.1 EXOC8 Ivone Leong gene: EXOC8 was added
gene: EXOC8 was added to Ophthalmological 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)
Ophthalmological ciliopathies v0.1 CRX Ivone Leong gene: CRX was added
gene: CRX was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: CRX was set to
Phenotypes for gene: CRX were set to Ciliopathies
Ophthalmological ciliopathies v0.1 CRB1 Ivone Leong gene: CRB1 was added
gene: CRB1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: CRB1 was set to
Phenotypes for gene: CRB1 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 CCDC28B Ivone Leong gene: CCDC28B was added
gene: CCDC28B was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 C8orf37 Ivone Leong gene: C8orf37 was added
gene: C8orf37 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 C2orf71 Ivone Leong gene: C2orf71 was added
gene: C2orf71 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: C2orf71 was set to
Phenotypes for gene: C2orf71 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 BBIP1 Ivone Leong gene: BBIP1 was added
gene: BBIP1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Ophthalmological 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; 25920555; 24886560
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27
Ophthalmological ciliopathies v0.1 AIPL1 Ivone Leong gene: AIPL1 was added
gene: AIPL1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: AIPL1 was set to
Phenotypes for gene: AIPL1 were set to Ciliopathies
Ophthalmological ciliopathies v0.1 RPGR Ivone Leong gene: RPGR was added
gene: RPGR was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ophthalmological ciliopathies v0.1 WDR19 Ivone Leong gene: WDR19 was added
gene: WDR19 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 VPS13B Ivone Leong gene: VPS13B was added
gene: VPS13B was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; COHEN SYNDROME
Ophthalmological ciliopathies v0.1 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TRAF3IP1 Ivone Leong gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Ophthalmological 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 20607301; 17160906; 18327255; 19058225; 19508969; 16415887
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
Ophthalmological ciliopathies v0.1 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 15797711
Phenotypes for gene: SCLT1 were set to Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36); No OMIM phenotype
Ophthalmological ciliopathies v0.1 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 PMM2 Ivone Leong gene: PMM2 was added
gene: PMM2 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 LZTFL1 Ivone Leong gene: LZTFL1 was added
gene: LZTFL1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 24140113
Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71, 616394; Short-rib thoracic dysplasia 10 with or without polydactyly; Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Ophthalmological ciliopathies v0.1 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Ophthalmological 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 18648327; 26830932; 19656802; 15843405
Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680
Ophthalmological ciliopathies v0.1 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Ophthalmological ciliopathies. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Ophthalmological ciliopathies v0.1 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CENPF Ivone Leong gene: CENPF was added
gene: CENPF was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 C21orf2 Ivone Leong gene: C21orf2 was added
gene: C21orf2 was added to Ophthalmological ciliopathies. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433; 27548899; 23105016; 26167768
Phenotypes for gene: C21orf2 were set to Jeune asphyxiating thoracic dystrophy (JATD); Jeune Syndrome; Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547
Ophthalmological ciliopathies v0.1 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 was added to Ophthalmological 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; 26092869
Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome
Ophthalmological ciliopathies v0.1 ARMC9 Ivone Leong gene: ARMC9 was added
gene: ARMC9 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Ophthalmological 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
Ophthalmological ciliopathies v0.1 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 was added to Ophthalmological 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.
Ophthalmological ciliopathies v0.0 Ivone Leong Added Panel Ophthalmological ciliopathies
Set panel types to: GMS Rare Disease Virtual