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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. |
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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) |
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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. |
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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) |
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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) |
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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) |
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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. |
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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. |
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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) |
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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) |
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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) |
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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) |
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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 |
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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" |
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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. |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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Ophthalmological ciliopathies v0.0 |
Ivone Leong Added Panel Ophthalmological ciliopathies Set panel types to: GMS Rare Disease Virtual |