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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
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)
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)
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)
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
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
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
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)
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