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Retinal disorders v4.36 | CFAP20 |
Zornitza Stark gene: CFAP20 was added gene: CFAP20 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP20 were set to 36329026 Phenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200) Review for gene: CFAP20 was set to GREEN Added comment: Describe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin. Family 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate. Family 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5) Family 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly). Family 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys) For all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old). Used HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues. CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. Sources: Literature |
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Retinal disorders v2.245 | TUBB4B | Ivone Leong Tag Q2_21_rating was removed from gene: TUBB4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.245 | TUBB4B | Ivone Leong commented on gene: TUBB4B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.244 | TUBB4B |
Ivone Leong Source Expert Review Green was added to TUBB4B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Retinal disorders v2.243 | TUBGCP6 | Ivone Leong Tag for-review was removed from gene: TUBGCP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | TUBGCP4 | Ivone Leong Tag for-review was removed from gene: TUBGCP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | TUBGCP6 | Ivone Leong commented on gene: TUBGCP6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | TUBGCP4 | Ivone Leong commented on gene: TUBGCP4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | TUBGCP6 |
Ivone Leong Source Expert Review Green was added to TUBGCP6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Retinal disorders v2.243 | TUBGCP4 |
Ivone Leong Source Expert Review Green was added to TUBGCP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Retinal disorders v2.164 | TUBB4B | Ivone Leong Tag Q2_21_rating tag was added to gene: TUBB4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.164 | TUBB4B | Ivone Leong Classified gene: TUBB4B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.164 | TUBB4B | Ivone Leong Gene: tubb4b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.163 | TUBGCP4 | Ivone Leong commented on gene: TUBGCP4: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.163 | TUBGCP4 | Ivone Leong Tag for-review tag was added to gene: TUBGCP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.163 | TUBGCP4 | Ivone Leong Publications for gene: TUBGCP4 were set to 25817018; 32270730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.162 | TUBGCP4 | Ivone Leong Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.161 | TUBGCP4 | Ivone Leong Publications for gene: TUBGCP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.160 | TUBGCP4 | Ivone Leong Mode of inheritance for gene: TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.159 | TUBB4B | Ivone Leong Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness, OMIM:617879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.110 | TUBGCP6 | Ivone Leong commented on gene: TUBGCP6: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.110 | TUBGCP6 | Ivone Leong Publications for gene: TUBGCP6 were set to 22279524; 25344692 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.109 | TUBGCP6 | Ivone Leong Mode of inheritance for gene: TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.108 | TUBGCP6 | Ivone Leong Tag for-review tag was added to gene: TUBGCP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.108 | TUBGCP6 | Ivone Leong Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270; microcephaly and chorioretinopathy 1, MONDO:0009624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.107 | TUBGCP6 | Ivone Leong Publications for gene: TUBGCP6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.20 | TUBGCP6 | Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22279524, 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.20 | TUBGCP4 | Zornitza Stark reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.20 | TUBB4B |
Zornitza Stark gene: TUBB4B was added gene: TUBB4B was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4B were set to 29198720 Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879 Review for gene: TUBB4B was set to GREEN gene: TUBB4B was marked as current diagnostic Added comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth. Sources: Expert list |
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Retinal disorders v2.6 | TUB | Louise Daugherty commented on gene: TUB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.6 | TUB | Louise Daugherty Tag watchlist was removed from gene: TUB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.5 | TUBGCP6 | Ivone Leong reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.5 | TUBGCP4 | Ivone Leong reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.3 | TUBGCP6 |
Ivone Leong gene: TUBGCP6 was added gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP6 was set to |
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Retinal disorders v2.3 | TUBGCP4 |
Ivone Leong gene: TUBGCP4 was added gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP4 was set to |
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Retinal disorders v1.159 | TUB | Gavin Arno reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.137 | TUB |
Ivone Leong Source NHS GMS was added to TUB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Retinal disorders | TUB | Ellen McDonagh edited their review of TUB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders | TUB | Ellen McDonagh edited their review of TUB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders | TUB | Ellen McDonagh edited their review of TUB |