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Neurological ciliopathies v6.12 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.
Neurological ciliopathies v6.12 TBC1D32 Achchuthan Shanmugasundram 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 IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Neurological ciliopathies v6.11 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska edited their review of gene: LRRC45: Changed publications to: 30131441, 34716235, 39638757
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska changed review comment from: 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. 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; to: 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
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska changed review comment from: 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. 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).

This gene is not yet associated with a disease in OMIM (accessed 11th Nov 2025).
Sources: Literature; to: 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. 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
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: LRRC45.
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska commented on gene: LRRC45: Comment on list classification: There are 5 individuals from 4 unrelated families reported in literature with biallelic variants in LRRC45. The individuals presented with a range of symptoms from the ciliopathy spectrum: severe neurodevelopmental delay, seizures, cone-rod dystrophy, respiratory insufficiency, muscular hypotonia. The c.1402-2A>G variant was shown to result in a significant reduction of primary cilia frequency and length in patient fibroblasts. In addition, LRRC45 is known to have a role in ciliogenesis. Based on the available evidence, LRRC45 should be promoted to Green for Neurological ciliopathies at the next GMS update.
Neurological ciliopathies v6.11 LRRC45 Ida Ertmanska Phenotypes for gene: LRRC45 were changed from ciliopathy, MONDO:0005308; Abnormal brain morphology, HP:0012443 to ciliopathy, MONDO:0005308; Abnormal brain morphology, HP:0012443; neurodevelopmental disorder, MONDO:0700092
Neurological ciliopathies v6.10 LRRC45 Ida Ertmanska edited their review of gene: LRRC45: Changed phenotypes to: ciliopathy, MONDO:0005308, Abnormal brain morphology, HP:0012443, neurodevelopmental disorder, MONDO:0700092
Neurological ciliopathies v6.10 LRRC45 Ida Ertmanska edited their review of gene: LRRC45: Changed phenotypes to: ciliopathy, MONDO:0005308, Abnormal brain morphology, HP:0012443
Neurological ciliopathies v6.10 LRRC45 Ida Ertmanska Phenotypes for gene: LRRC45 were changed from ciliopathy, MONDO:0005308 to ciliopathy, MONDO:0005308; Abnormal brain morphology, HP:0012443
Neurological ciliopathies v6.9 LRRC45 Ida Ertmanska Classified gene: LRRC45 as Amber List (moderate evidence)
Neurological ciliopathies v6.9 LRRC45 Ida Ertmanska Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v6.8 LRRC45 Ida Ertmanska gene: LRRC45 was added
gene: LRRC45 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC45 were set to 34716235; 39638757
Phenotypes for gene: LRRC45 were set to ciliopathy, MONDO:0005308
Review for gene: LRRC45 was set to GREEN
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. 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).

This gene is not yet associated with a disease in OMIM (accessed 11th Nov 2025).
Sources: Literature
Neurological ciliopathies v6.7 KIAA0556 Eleanor Williams Classified gene: KIAA0556 as Amber List (moderate evidence)
Neurological ciliopathies v6.7 KIAA0556 Eleanor Williams Added comment: Comment on list classification: This gene is recommended for green rating following GMS review since there is a distinct brain phenotype in 4 families in which there are biallelic variants.
Neurological ciliopathies v6.7 KIAA0556 Eleanor Williams Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v6.6 KIAA0556 Eleanor Williams Phenotypes for gene: KIAA0556 were changed from ?Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Neurological ciliopathies v6.5 KIAA0556 Eleanor Williams Publications for gene: KIAA0556 were set to
Neurological ciliopathies v6.4 KIAA0556 Eleanor Williams Classified gene: KIAA0556 as Amber List (moderate evidence)
Neurological ciliopathies v6.4 KIAA0556 Eleanor Williams Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v6.3 KIAA0556 Eleanor Williams Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Neurological ciliopathies v6.3 KIAA0556 Eleanor Williams edited their review of gene: KIAA0556: Changed publications to: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090
Neurological ciliopathies v6.3 KIAA0556 Eleanor Williams reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v6.3 EVC2 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: EVC2.
Neurological ciliopathies v6.3 EVC2 Eleanor Williams Added comment: Comment on phenotypes: Phenotypes accessed in OMIM on 22nd September 2025
Neurological ciliopathies v6.3 EVC2 Eleanor Williams Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500; Weyers acrofacial dysostosis, OMIM:193530
Neurological ciliopathies v6.2 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Neurological ciliopathies v6.1 EVC2 Ida Ertmanska commented on gene: EVC2: Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Neurological ciliopathies v6.1 EVC2 Ida Ertmanska reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531627, 23220543, 19810119, 16404586; Phenotypes: Weyers acrofacial dysostosis, OMIM:193530, acrofacial dysostosis, Weyers type, MONDO:0008673; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2025-04-30
Neurological ciliopathies v6.0 Eleanor Williams promoted panel to version 6.0
Neurological ciliopathies v5.3 FAM149B1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAM149B1.
Neurological ciliopathies v5.3 FAM149B1 Sarah Leigh reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v5.2 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)
Neurological ciliopathies v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-10-30
Neurological ciliopathies v5.0 Arina Puzriakova promoted panel to version 5.0
Neurological ciliopathies v4.10 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Neurological ciliopathies v4.9 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios to Brain malformation renal syndrome, OMIM:620943
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams Tag Q1_24_promote_green was removed from gene: EXOC3L2.
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v4.7 EXOC3L2 Eleanor Williams Source NHS GMS was added to EXOC3L2.
Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v4.6 Arina Puzriakova Panel version 4.5 has been signed off on 2024-08-07
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400
Neurological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Green List (high evidence)
Neurological ciliopathies v4.3 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.
Neurological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Green List (High Evidence).
Neurological ciliopathies v4.2 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).
Neurological 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
Neurological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Neurological 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: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-05-01
Neurological ciliopathies v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Neurological ciliopathies v3.20 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
Neurological ciliopathies v3.19 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
Neurological ciliopathies v3.18 EXOC3L2 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: EXOC3L2.
Neurological ciliopathies v3.18 EXOC3L2 Sarah Leigh Classified gene: EXOC3L2 as Amber List (moderate evidence)
Neurological ciliopathies v3.18 EXOC3L2 Sarah Leigh Added comment: Comment on list classification: There is sufficient evidence for this gene to be green on this panel.
Neurological ciliopathies v3.18 EXOC3L2 Sarah Leigh Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v3.17 EXOC3L2 Sarah Leigh Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448
Neurological ciliopathies v3.16 EXOC3L2 Sarah Leigh reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Neurological ciliopathies v3.16 EXOC3L2 Sarah Leigh Publications for gene: EXOC3L2 were set to 28749478; 27894351
Neurological ciliopathies v3.13 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Neurological ciliopathies v3.13 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Neurological ciliopathies v3.13 CBY1 Eleanor Williams Tag gene-checked tag was added to gene: CBY1.
Neurological ciliopathies v3.13 CBY1 Eleanor Williams commented on gene: CBY1
Neurological ciliopathies v3.13 TOGARAM1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TOGARAM1.
Neurological ciliopathies v3.13 SUFU Sarah Leigh 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.
Neurological ciliopathies v3.13 SUFU Sarah Leigh Mode of inheritance for gene: SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 IFT74 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IFT74.
Neurological ciliopathies v3.12 CBY1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CBY1.
Neurological ciliopathies v3.12 TOGARAM1 Sarah Leigh edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 SUFU Sarah Leigh reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 IFT74 Sarah Leigh edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 CBY1 Sarah Leigh edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.11 TOGARAM1 Sarah Leigh Source Expert Review Green was added to TOGARAM1.
Source NHS GMS was added to TOGARAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 SUFU Sarah Leigh Source Expert Review Green was added to SUFU.
Source NHS GMS was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 IFT74 Sarah Leigh Source Expert Review Green was added to IFT74.
Source NHS GMS was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 CBY1 Sarah Leigh Source Expert Review Green was added to CBY1.
Source NHS GMS was added to CBY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.10 SUFU Arina Puzriakova Tag Q4_22_expert_review tag was added to gene: SUFU.
Neurological ciliopathies v3.10 CCDC28B Sarah Leigh changed review comment from: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing.
PMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length.; to: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing, plus, it is classified as Benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1271446/).
PMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length.
Neurological ciliopathies v3.10 CCDC28B Sarah Leigh reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Neurological ciliopathies v3.10 CCDC28B Sarah Leigh Publications for gene: CCDC28B were set to 32139166
Neurological ciliopathies v3.9 CCDC28B Sarah Leigh Classified gene: CCDC28B as Red List (low evidence)
Neurological ciliopathies v3.9 CCDC28B Sarah Leigh Gene: ccdc28b has been classified as Red List (Low Evidence).
Neurological ciliopathies v3.8 CCDC28B Sarah Leigh Phenotypes for gene: CCDC28B were changed from Joubert syndrome to Joubert syndrome, MONDO:0018772
Neurological ciliopathies v3.7 CCDC28B Sarah Leigh Classified gene: CCDC28B as Amber List (moderate evidence)
Neurological ciliopathies v3.7 CCDC28B Sarah Leigh Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v3.6 TOGARAM1 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: TOGARAM1.
Neurological ciliopathies v3.6 TOGARAM1 Sarah Leigh edited their review of gene: TOGARAM1: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. PMIDs:32747439; 32453716 report seven TOGARAM1 variants in five unrelated cases of Joubert syndrome 37, OMIM:619185. Supportive functional datawas presented PMIDs:32747439; 32453716.; Changed rating: GREEN
Neurological ciliopathies v3.6 TOGARAM1 Sarah Leigh Classified gene: TOGARAM1 as Amber List (moderate evidence)
Neurological ciliopathies v3.6 TOGARAM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurological ciliopathies v3.6 TOGARAM1 Sarah Leigh Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v3.5 TOGARAM1 Sarah Leigh Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, MIM# 619185 to Joubert syndrome 37, OMIM:619185; Joubert syndrome 37, MONDO:0030933
Neurological ciliopathies v3.4 IFT74 Sarah Leigh edited their review of gene: IFT74: Added comment: Associated with Joubert syndrome 40 in OMIM (OMIM:619582) and as a definitive gene for IFT74-associated ciliopathy in Gen2Phen. Five IFT74 variants have been associated with OMIM:619582, in four unrelated Chinese families, supportive functional studies have been perfomed on patient fibroblasts and zebra fish IFT74 morphants (PMID: 33531668).; Changed rating: GREEN
Neurological ciliopathies v3.4 IFT74 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: IFT74.
Neurological ciliopathies v3.4 IFT74 Sarah Leigh Classified gene: IFT74 as Amber List (moderate evidence)
Neurological ciliopathies v3.4 IFT74 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurological ciliopathies v3.4 IFT74 Sarah Leigh Gene: ift74 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v3.3 IFT74 Sarah Leigh Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, OMIM:619582; Joubert syndrome 40, MONDO:0030462
Neurological ciliopathies v3.2 CBY1 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: CBY1.
Neurological ciliopathies v3.2 CBY1 Sarah Leigh edited their review of gene: CBY1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33131181 reports two frame shifting CBY1 variants ( NM_015373.3:c.189_190del; p.(Val65*) & NM_015373.3:c.64_65dup; p.(Asn23Profs*24)), one in each of two consanguineous families, where the parents were heterozygous and the affected children were homozygous. Extensive functional studies have shown the role of CBY1 in cilial formation and function, and the disruptive effect of the variants (PMID: 33131181; 25103236; 25220153).; Changed rating: GREEN
Neurological ciliopathies v3.2 CBY1 Sarah Leigh Classified gene: CBY1 as Amber List (moderate evidence)
Neurological ciliopathies v3.2 CBY1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurological ciliopathies v3.2 CBY1 Sarah Leigh Gene: cby1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22
Neurological ciliopathies v3.0 Eleanor Williams promoted panel to version 3.0
Neurological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.
Neurological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054
Neurological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.
Neurological ciliopathies v2.7 TMEM218 Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682
Neurological ciliopathies v2.6 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF423.
Tag Q3_22_expert_review was removed from gene: ZNF423.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLHs: "Chaki paper from 2012 has not been well-replicated in the decade since. Some individual reports but nothing convincing. Lack of clear biallelic LOF variants reported in humans"
Neurological ciliopathies v2.6 LAMA1 Arina Puzriakova Tag Q3_21_rating was removed from gene: LAMA1.
Tag Q3_21_expert_review was removed from gene: LAMA1.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova edited their review of gene: ZNF423: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Neurological ciliopathies v2.6 LAMA1 Arina Puzriakova edited their review of gene: LAMA1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Neurological ciliopathies v2.5 LAMA1 Arina Puzriakova 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)
Neurological ciliopathies v2.4 SUFU Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence)
Neurological ciliopathies v2.4 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.
Neurological ciliopathies v2.4 SUFU Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v2.3 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.
Neurological ciliopathies v2.3 SUFU Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurological ciliopathies v2.2 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.
Neurological ciliopathies v2.2 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
Neurological ciliopathies v2.2 SUFU Arina Puzriakova Publications for gene: SUFU were set to
Neurological ciliopathies v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Neurological ciliopathies v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Neurological ciliopathies v1.33 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757
Neurological ciliopathies v1.32 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.
Neurological ciliopathies v1.32 ZNF423 Eleanor Williams commented on gene: ZNF423
Neurological ciliopathies v1.32 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to
Neurological ciliopathies v1.31 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Neurological ciliopathies v1.31 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Neurological ciliopathies v1.31 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Neurological ciliopathies v1.31 ZNF423 Arina Puzriakova Publications for gene: ZNF423 were set to
Neurological ciliopathies v1.30 ZNF423 Arina Puzriakova Tag Q1_22_expert_review tag was added to gene: ZNF423.
Neurological ciliopathies v1.30 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.
Neurological ciliopathies v1.30 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
Neurological 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
Neurological ciliopathies v1.29 TMEM218 Eleanor Williams Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Neurological ciliopathies v1.29 TMEM218 Sarah Leigh commented on gene: TMEM218
Neurological ciliopathies v1.28 TMEM218 Eleanor Williams Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v1.27 PIBF1 Eleanor Williams Phenotypes for gene: PIBF1 were changed from Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia to Joubert syndrome 33, OMIM:617767; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia
Neurological ciliopathies v1.26 PIBF1 Eleanor Williams Tag for-review was removed from gene: PIBF1.
Neurological ciliopathies v1.26 PIBF1 Sarah Leigh commented on gene: PIBF1
Neurological ciliopathies v1.25 PIBF1 Eleanor Williams Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v1.24 TMEM218 Ivone Leong Classified gene: TMEM218 as Amber List (moderate evidence)
Neurological ciliopathies v1.24 TMEM218 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.
Neurological ciliopathies v1.24 TMEM218 Ivone Leong Gene: tmem218 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v1.23 TMEM218 Ivone Leong Tag Q4_21_NHS_review tag was added to gene: TMEM218.
Neurological ciliopathies v1.23 TMEM218 Ivone Leong Tag Q4_21_rating tag was added to gene: TMEM218.
Neurological ciliopathies v1.23 TMEM218 Ivone Leong Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, OMIM:619562
Neurological ciliopathies v1.22 TMEM218 Ivone Leong Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016
Neurological ciliopathies v1.21 EVC Ivone Leong Added comment: Comment on phenotypes: It is also associated with ?Weyers acrofacial dysostosis, OMIM:193530.
Neurological ciliopathies v1.21 EVC Ivone Leong Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500
Neurological ciliopathies v1.20 TMEM218 Tom Cullup reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791682; Phenotypes: JOUBERT SYNDROME 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v1.20 ARL3 Ivone Leong Classified gene: ARL3 as Amber List (moderate evidence)
Neurological ciliopathies v1.20 ARL3 Ivone Leong Added comment: Comment on list classification: New gene submitted by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome).

As there are only 2 cases that have been associated with Joubert syndrome (PMID:30269812) and the knockout mouse model does not appear to have a neurological phenotype (PMID:16565502) this gene has been given an Amber rating until further evidence is available.
Neurological ciliopathies v1.20 ARL3 Ivone Leong Gene: arl3 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v1.19 ARL3 Ivone Leong Tag watchlist tag was added to gene: ARL3.
Neurological ciliopathies v1.19 ARL3 Ivone Leong Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.

PMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.

PMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.

PMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.

PMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.

PMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.

PMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.
Neurological ciliopathies v1.19 ARL3 Ivone Leong Publications for gene: ARL3 were set to 30269812; 16565502
Neurological ciliopathies v1.18 LAMA1 Arina Puzriakova Classified gene: LAMA1 as Amber List (moderate evidence)
Neurological ciliopathies v1.18 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.
Neurological ciliopathies v1.18 LAMA1 Arina Puzriakova Gene: lama1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v1.17 LAMA1 Arina Puzriakova Tag Q3_21_rating tag was added to gene: LAMA1.
Tag Q3_21_expert_review tag was added to gene: LAMA1.
Neurological ciliopathies v1.17 LAMA1 Arina Puzriakova Entity copied from Rare multisystem ciliopathy disorders v1.146
Neurological ciliopathies v1.17 LAMA1 Arina Puzriakova gene: LAMA1 was added
gene: LAMA1 was added to Neurological 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
Neurological ciliopathies v1.16 ARL3 Ivone Leong Phenotypes for gene: ARL3 were changed from Joubert syndrome 35 MIM#61816 to Joubert syndrome 35, OMIM:61816
Neurological ciliopathies v1.15 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 33531668
Phenotypes for gene: IFT74 were set to Joubert syndrome
Review for gene: IFT74 was set to GREEN
Added comment: Gene is associated with BBS. Note new publication:

PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: Literature
Neurological ciliopathies v1.15 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Neurological ciliopathies v1.15 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
Neurological ciliopathies v1.14 CBY1 Zornitza Stark gene: CBY1 was added
gene: CBY1 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
gene: CBY1 was marked as current diagnostic
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Neurological ciliopathies v1.14 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
Neurological ciliopathies v1.13 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
Neurological ciliopathies v1.12 B9D2 Arina Puzriakova commented on gene: B9D2
Neurological ciliopathies v1.12 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
Neurological ciliopathies v1.11 RABL2A Eleanor Williams gene: RABL2A was added
gene: RABL2A was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: RABL2A was set to Unknown
Publications for gene: RABL2A were set to 33075816
Phenotypes for gene: RABL2A were set to neural tube defects
Review for gene: RABL2A was set to RED
Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: Literature
Neurological ciliopathies v1.10 TMEM218 Zornitza Stark gene: TMEM218 was added
gene: TMEM218 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 individuals in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration.
Sources: Literature
Neurological ciliopathies v1.10 Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off
Neurological ciliopathies v1.9 PIBF1 Arina Puzriakova Tag for-review tag was added to gene: PIBF1.
Neurological ciliopathies v1.9 PIBF1 Arina Puzriakova Publications for gene: PIBF1 were set to 26167768
Neurological ciliopathies v1.8 PIBF1 Arina Puzriakova Classified gene: PIBF1 as Amber List (moderate evidence)
Neurological ciliopathies v1.8 PIBF1 Arina Puzriakova Added comment: Comment on list classification: With the addition of the two recent reports, there are now at least 7 total families (4 with same founder variant) with Joubert syndrome associated with biallelic variants in this gene.
Neurological ciliopathies v1.8 PIBF1 Arina Puzriakova Gene: pibf1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v1.7 PIBF1 Arina Puzriakova reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v1.7 ARL3 Zornitza Stark gene: ARL3 was added
gene: ARL3 was added to Neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#61816
Review for gene: ARL3 was set to GREEN
gene: ARL3 was marked as current diagnostic
Added comment: 4 individuals from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert list
Neurological ciliopathies v1.7 EXOC3L2 Zornitza Stark edited their review of gene: EXOC3L2: Added comment: Four individuals from two unrelated families reported.; Changed rating: AMBER; Changed publications: 28749478, 27894351, 30327448; Changed phenotypes: hindbrain abnormalities, kidney and bone marrow abnormalities
Neurological ciliopathies v1.7 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 32139166
Phenotypes for gene: CCDC28B were set to Joubert syndrome
Review for gene: CCDC28B was set to AMBER
Added comment: Note new publication relating to this gene, which has previously been postulated to be a modifier for BBS. PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers.

Borderline Amber/Red but note knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia, providing some supportive evidence.
Sources: Expert list
Neurological ciliopathies v1.7 WDR63 Catherine Snow Tag new-gene-name tag was added to gene: WDR63.
Neurological ciliopathies v1.7 WDR63 Catherine Snow commented on gene: WDR63
Neurological ciliopathies v1.7 KIAA0556 Catherine Snow Tag new-gene-name tag was added to gene: KIAA0556.
Neurological ciliopathies v1.7 KIAA0556 Catherine Snow commented on gene: KIAA0556
Neurological ciliopathies v1.6 Catherine Snow Panel version has been signed off
Neurological ciliopathies v1.5 Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Neurological ciliopathies v1.4 Catherine Snow Panel version has been signed off
Neurological ciliopathies v1.2 PIBF1 Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 30858804, 29695797; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurological ciliopathies v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Neurological ciliopathies v1.0 Louise Daugherty promoted panel to version 1.0
Neurological ciliopathies v0.10 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Neurological ciliopathies v0.9 Louise Daugherty Panel types changed to Component Of Super Panel
Neurological ciliopathies v0.7 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
Neurological ciliopathies v0.7 FAM149B1 Eleanor Williams Classified gene: FAM149B1 as Amber List (moderate evidence)
Neurological ciliopathies v0.7 FAM149B1 Eleanor Williams Added comment: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.
Neurological ciliopathies v0.7 FAM149B1 Eleanor Williams Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v0.6 FAM149B1 Eleanor Williams gene: FAM149B1 was added
gene: FAM149B1 was added to Neurological 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
Neurological ciliopathies v0.5 ICK Eleanor Williams commented on gene: ICK
Neurological ciliopathies v0.5 ICK Eleanor Williams Tag new-gene-name tag was added to gene: ICK.
Neurological ciliopathies v0.3 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844
Neurological ciliopathies v0.3 SUFU Ellen McDonagh gene: SUFU was added
gene: SUFU was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757
Neurological ciliopathies v0.3 POC1B Ellen McDonagh gene: POC1B was added
gene: POC1B was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Joubert Syndrome; Senior-Loken Syndrome
Neurological ciliopathies v0.3 WDR63 Ellen McDonagh gene: WDR63 was added
gene: WDR63 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: WDR63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR63 were set to occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder
Neurological ciliopathies v0.3 TBC1D32 Ellen McDonagh gene: TBC1D32 was added
gene: TBC1D32 was added to Neurological ciliopathies. Sources: 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)
Neurological ciliopathies v0.3 TAPT1 Ellen McDonagh gene: TAPT1 was added
gene: TAPT1 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Neurological ciliopathies v0.3 PIBF1 Ellen McDonagh gene: PIBF1 was added
gene: PIBF1 was added to Neurological ciliopathies. Sources: Expert Review Red
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
Neurological ciliopathies v0.3 PDE6D Ellen McDonagh gene: PDE6D was added
gene: PDE6D was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 KIF14 Ellen McDonagh gene: KIF14 was added
gene: KIF14 was added to Neurological ciliopathies. Sources: Expert Review Red
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
Neurological ciliopathies v0.3 KIAA0556 Ellen McDonagh gene: KIAA0556 was added
gene: KIAA0556 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 EXOC8 Ellen McDonagh gene: EXOC8 was added
gene: EXOC8 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: EXOC8 was set to Unknown
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)
Neurological ciliopathies v0.3 EXOC3L2 Ellen McDonagh gene: EXOC3L2 was added
gene: EXOC3L2 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 B9D1 Ellen McDonagh gene: B9D1 was added
gene: B9D1 was added to Neurological ciliopathies. Sources: Expert Review Red
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
Neurological ciliopathies v0.3 ZSWIM6 Ellen McDonagh gene: ZSWIM6 was added
gene: ZSWIM6 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments
Neurological ciliopathies v0.3 VPS13B Ellen McDonagh gene: VPS13B was added
gene: VPS13B was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TXNDC15 Ellen McDonagh gene: TXNDC15 was added
gene: TXNDC15 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TMEM107 Ellen McDonagh gene: TMEM107 was added
gene: TMEM107 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 SCLT1 Ellen McDonagh gene: SCLT1 was added
gene: SCLT1 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 KIAA0753 Ellen McDonagh gene: KIAA0753 was added
gene: KIAA0753 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 26643951
Phenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV 617127
Neurological ciliopathies v0.3 KIAA0586 Ellen McDonagh gene: KIAA0586 was added
gene: KIAA0586 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 ICK Ellen McDonagh gene: ICK was added
gene: ICK was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 HYLS1 Ellen McDonagh gene: HYLS1 was added
gene: HYLS1 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 GLI3 Ellen McDonagh gene: GLI3 was added
gene: GLI3 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 EVC2 Ellen McDonagh gene: EVC2 was added
gene: EVC2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530
Neurological ciliopathies v0.3 EVC Ellen McDonagh gene: EVC was added
gene: EVC was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530
Neurological ciliopathies v0.3 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 DDX59 Ellen McDonagh gene: DDX59 was added
gene: DDX59 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 CSPP1 Ellen McDonagh gene: CSPP1 was added
gene: CSPP1 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 CRB2 Ellen McDonagh gene: CRB2 was added
gene: CRB2 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 CEP104 Ellen McDonagh gene: CEP104 was added
gene: CEP104 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 CENPF Ellen McDonagh gene: CENPF was added
gene: CENPF was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 C2CD3 Ellen McDonagh gene: C2CD3 was added
gene: C2CD3 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867
Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200)
Neurological ciliopathies v0.3 B9D2 Ellen McDonagh gene: B9D2 was added
gene: B9D2 was added to Neurological ciliopathies. Sources: Expert Review Green
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
Neurological ciliopathies v0.3 ARMC9 Ellen McDonagh gene: ARMC9 was added
gene: ARMC9 was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Neurological ciliopathies. Sources: 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
Neurological ciliopathies v0.3 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Neurological ciliopathies. Sources: Expert Review Green
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.
Neurological ciliopathies v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Neurological ciliopathies v0.1 Ellen McDonagh Panel status changed from internal to public
Neurological ciliopathies v0.0 Louise Daugherty Added Panel Neurological ciliopathies
Set panel types to: GMS Rare Disease Virtual