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Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155 ARHGEF18 Sangavi Sivagnanasundram reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132693, 23698346; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.154 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.153 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.153 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.152 DHDDS Zornitza Stark edited their review of gene: DHDDS: Added comment: ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.; Changed rating: GREEN; Changed publications: 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393; Changed phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.152 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.151 TMEM216 Zornitza Stark edited their review of gene: TMEM216: Changed publications: 39191256
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.151 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.151 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.151 TMEM216 Zornitza Stark Classified gene: TMEM216 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.151 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.150 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
UTR tags were added to gene: TMEM216.
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Retinitis pigmentosa, MONDO:0019200, TMEM216-related
Review for gene: TMEM216 was set to GREEN
Added comment: Two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]) found in individuals of South Asian and African ancestry, respectively.

This included 71 homozygotes and 3 mixed heterozygotes in trans with a predicted loss-of-function allele. Haplotype analysis showed single-nucleotide variants (SNVs) common across families, suggesting ancestral alleles within the two distinct ethnic populations.

Clinical phenotype analysis of 62 available individuals from 49 families indicated a similar clinical presentation with night blindness in the first decade and progressive peripheral field loss thereafter. No evident systemic ciliopathy features were noted.

Functional characterization of these variants by luciferase reporter gene assay showed reduced promotor activity.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.149 COQ8B Bryony Thompson Marked gene: COQ8B as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.149 COQ8B Bryony Thompson Gene: coq8b has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.149 COQ8B Bryony Thompson Classified gene: COQ8B as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.149 COQ8B Bryony Thompson Gene: coq8b has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.148 COQ8B Bryony Thompson gene: COQ8B was added
gene: COQ8B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to 39226897; 25967120
Phenotypes for gene: COQ8B were set to Retinitis pigmentosa MONDO:0019200
Review for gene: COQ8B was set to GREEN
gene: COQ8B was marked as current diagnostic
Added comment: PMID: 39226897 - 5 individuals from 4 unrelated families with non-syndromic RP (normal renal function) and COQ8B chet variants (5 different variants). In vitro functional assays of the variant demonstrated a significant decrease in ligand-protein interaction compared to the wild type.
PMID: 25967120 - 1 case with a homozygous truncating variant reported with FSGS and RP
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy to AIPL1-related retinopathy (MONDO:0100438)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.146 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 C2orf71 Zornitza Stark Tag new gene name tag was added to gene: C2orf71.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 AIPL1 Sangavi Sivagnanasundram reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004084; Phenotypes: AIPL1-related retinopathy (MONDO:0100438); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 PQLC2 Zornitza Stark Marked gene: PQLC2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 PQLC2 Zornitza Stark Gene: pqlc2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 PQLC2 Zornitza Stark Phenotypes for gene: PQLC2 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.144 PQLC2 Zornitza Stark Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.143 PQLC2 Zornitza Stark Tag new gene name tag was added to gene: PQLC2.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.143 SLC39A12 Zornitza Stark Marked gene: SLC39A12 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.143 SLC39A12 Zornitza Stark Gene: slc39a12 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.143 SLC39A12 Zornitza Stark Phenotypes for gene: SLC39A12 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC39A12-related
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.142 SLC4A7 Zornitza Stark Marked gene: SLC4A7 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.142 SLC4A7 Zornitza Stark Gene: slc4a7 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.142 SLC4A7 Zornitza Stark Phenotypes for gene: SLC4A7 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.141 SLC4A7 Chirag Patel Classified gene: SLC4A7 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.141 SLC4A7 Chirag Patel Gene: slc4a7 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.140 SLC4A7 Chirag Patel gene: SLC4A7 was added
gene: SLC4A7 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: SLC4A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A7 were set to PMID: 35486108, 32594822
Phenotypes for gene: SLC4A7 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: SLC4A7 was set to AMBER
Added comment: Total 4 individuals from 3 families (2 known to be from same ethnic origin: Oriental-Jewish) with adult onset retinitis pigmentosa. All individuals had same homozygous frameshift variant in SLC4A7 gene (p.P670Sfs*6). RNA seq analysis revealed retinal expression in human and mouse samples. Immunohistochemistry of human and mouse retina revealed relatively strong expression in various retinal layers. Western blot analysis in fibroblasts from 1 patient showed absence of encoded protein.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.139 SLC39A12 Chirag Patel gene: SLC39A12 was added
gene: SLC39A12 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: SLC39A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A12 were set to PMID: 35486108
Phenotypes for gene: SLC39A12 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: SLC39A12 was set to RED
Added comment: WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 1 homozygous variant in SLC39A12 in 1 individual with adult-onset mild widespread retinal degeneration with marked macular involvement. No functional data. RNA seq analysis revealed retinal expression in human samples. Immunohistochemistry of human and mouse retina revealed comprehensive expression in various retinal cells including retinal pigment epithelium.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.138 PQLC2 Chirag Patel Classified gene: PQLC2 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.138 PQLC2 Chirag Patel Gene: pqlc2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.137 PQLC2 Chirag Patel gene: PQLC2 was added
gene: PQLC2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024
Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: PQLC2 was set to GREEN
gene: PQLC2 was marked as current diagnostic
Added comment: HGNC Gene Symbol: SLC66A1
Total 8 individuals from 6 families.

Millo et al. (2022)(PMID: 35486108) -
WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 2 different homozygous variants in SLC66A1 in 3 individuals from 2 families with adult-onset retinal dystrophy. No functional data.


Olinger et al. (2024)(https://www.sciencedirect.com/science/article/pii/S2949774424009804) -
CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. They identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy (parents HTZ carriers). Review of cohort data then identified homozygous LOF variants (1 nonsense, 2 frameshift) in another 3 individuals with rod-cone dystrophy.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.136 SLC37A3 Zornitza Stark Marked gene: SLC37A3 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.136 SLC37A3 Zornitza Stark Gene: slc37a3 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.136 SLC37A3 Zornitza Stark Classified gene: SLC37A3 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.136 SLC37A3 Zornitza Stark Gene: slc37a3 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.135 SLC37A3 Zornitza Stark gene: SLC37A3 was added
gene: SLC37A3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: SLC37A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC37A3 were set to 28041643; 35486108
Phenotypes for gene: SLC37A3 were set to Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
Review for gene: SLC37A3 was set to GREEN
Added comment: Three unrelated cases reported with biallelic variants in SLC37A3 gene (One case in PMID:28041643 and two cases in PMID:35486108) and with autosomal recessive retinitis pigmentosa.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.134 CFAP20 Ain Roesley Marked gene: CFAP20 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.134 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.134 CFAP20 Ain Roesley Phenotypes for gene: CFAP20 were changed from Retinitis pigmentosa (MONDO:0019200) to Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.133 CFAP20 Ain Roesley Classified gene: CFAP20 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.133 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CFAP20 Sarah Pantaleo gene: CFAP20 was added
gene: CFAP20 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP20 were set to PMID:36329026
Phenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)
Review for gene: CFAP20 was set to GREEN
Added comment: 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.

Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy (retinitis pigments). Hence, CFAP20 functions within a structural./functional hub centred on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associaetd domains or macromolecular complexes.

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.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Marked gene: CEP162 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Gene: cep162 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Marked gene: CEP162 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Gene: cep162 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Classified gene: CEP162 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.132 CEP162 Zornitza Stark Gene: cep162 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.131 CEP162 Paul De Fazio gene: CEP162 was added
gene: CEP162 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP162 were set to 36862503
Phenotypes for gene: CEP162 were set to Retinitis pigmentosa MONDO:0019200, CEP162-related
Penetrance for gene: CEP162 were set to unknown
Review for gene: CEP162 was set to AMBER
gene: CEP162 was marked as current diagnostic
Added comment: 2 patients from reportedly unrelated consanguineous Moroccan families with the same homozygous frameshift variant reported with late-onset retinal degeneration. Patient 1 was diagnosed with RP at age 60, patient 2 at age 69. Both reported loss of visual acuity in the years prior.

Immunoblotting of cell lysates from patient fibroblasts showed that some mutant transcript escaped NMD. Functional testing showed that the truncated protein could bind microtubules but was unable to associate with centrioles or its interaction partner CEP290. Patient fibroblasts were shown to have delayed ciliation.

Mutant protein was unable to rescue loss of cilia in CEP162 knockdown mice supporting that the mutant protein does not retain any ciliary function, however additional data supported that the truncated protein was able to bind microtubules and function normally during neuroretinal development. The authors suggest this likely underlies the late-onset RP in both patients.

Rated Amber because only a single variant has been reported in patients who may or may not be related (same ethnic background).
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.131 Zornitza Stark HPO terms changed from to Abnormal retinal morphology, HP:0000479
List of related panels changed from to Abnormal retinal morphology; HP:0000479
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Classified gene: RAX2 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.129 RAX2 Zornitza Stark gene: RAX2 was added
gene: RAX2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: RAX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX2 were set to 30607024
Phenotypes for gene: RAX2 were set to Retinitis pigmentosa-95 (RP95), MIM#620102
Review for gene: RAX2 was set to GREEN
Added comment: 6 individuals from 5 families reported.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.128 ADGRA3 Zornitza Stark Marked gene: ADGRA3 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.128 ADGRA3 Zornitza Stark Gene: adgra3 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.128 ADGRA3 Zornitza Stark Phenotypes for gene: ADGRA3 were changed from retinal dystrophy to Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Marked gene: MERTK as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Gene: mertk has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Phenotypes for gene: MERTK were changed from childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862 to Retinitis pigmentosa 38, MIM# 613862
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.126 MERTK Zornitza Stark Publications for gene: MERTK were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 MERTK Zornitza Stark reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38, MIM# 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Marked gene: RP2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Publications for gene: RP2 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RP1 Belinda Chong reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31213501, 15863674, 15863674; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RP1 Belinda Chong Deleted their review
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RP1 Belinda Chong reviewed gene: RP1: Rating: ; Mode of pathogenicity: None; Publications: 10391211, 10465120, 10465120, 10484783, 29425069, 31213501; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RBP3 Zornitza Stark Marked gene: RBP3 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RBP3 Zornitza Stark Gene: rbp3 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RBP3 Zornitza Stark reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19074801, 29571629, 26066594, 25766589; Phenotypes: Retinitis pigmentosa 66, MIM# 615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RP2 Belinda Chong reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 RPE65 Belinda Chong reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326941, 9501220, 15557452; Phenotypes: Retinitis pigmentosa 20 MIM#613794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 CNGB1 Zornitza Stark Marked gene: CNGB1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 CNGB1 Zornitza Stark Gene: cngb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 CNGB1 Zornitza Stark Phenotypes for gene: CNGB1 were changed from Retinitis pigmentosa 45, 613767 to Retinitis pigmentosa 45, MIM#613767
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.123 CNGB1 Zornitza Stark Publications for gene: CNGB1 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.122 CNGB1 Zornitza Stark reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.122 CNGA1 Zornitza Stark Marked gene: CNGA1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.122 CNGA1 Zornitza Stark Gene: cnga1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.122 CNGA1 Zornitza Stark Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.121 CNGA1 Zornitza Stark Publications for gene: CNGA1 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.120 CNGA1 Zornitza Stark reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.120 PLA2G5 Zornitza Stark Phenotypes for gene: PLA2G5 were changed from Fleck retina, familial benign to [Fleck retina, familial benign], MIM# 228980
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.119 PLA2G5 Zornitza Stark Publications for gene: PLA2G5 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.118 PLA2G5 Zornitza Stark reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.118 PDE6G Zornitza Stark Marked gene: PDE6G as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.118 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.118 PDE6G Zornitza Stark Phenotypes for gene: PDE6G were changed from Retinitis pigmentosa 57, 613582 to Retinitis pigmentosa 57, MIM#613582
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.117 PDE6G Zornitza Stark Publications for gene: PDE6G were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.116 PDE6G Zornitza Stark Classified gene: PDE6G as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.116 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.115 PDE6G Zornitza Stark reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.115 PDE6A Zornitza Stark Marked gene: PDE6A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.115 PDE6A Zornitza Stark Gene: pde6a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.115 PDE6A Zornitza Stark Publications for gene: PDE6A were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.114 PDE6A Zornitza Stark reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587, 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.114 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.114 FAM161A Zornitza Stark Gene: fam161a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.114 FAM161A Zornitza Stark Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 to Retinitis pigmentosa 28, 606068; Retinitis pigmentosa 28 MONDO:0011630
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.113 FAM161A Zornitza Stark Publications for gene: FAM161A were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.112 FAM161A Zornitza Stark reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: Retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.112 PRCD Zornitza Stark Marked gene: PRCD as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.112 PRCD Zornitza Stark Gene: prcd has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.112 PRCD Zornitza Stark Phenotypes for gene: PRCD were changed from Retinitis pigmentosa 36, 610599 to Retinitis pigmentosa 36, MIM# 610599
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.111 PRCD Zornitza Stark Publications for gene: PRCD were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 PRCD Zornitza Stark reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Marked gene: USH2A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Publications for gene: USH2A were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.109 USH2A Belinda Chong reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.109 KIZ Zornitza Stark Marked gene: KIZ as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.109 KIZ Zornitza Stark Gene: kiz has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.109 KIZ Zornitza Stark Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, MIM# 615780
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.108 KIZ Zornitza Stark Publications for gene: KIZ were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.107 KIZ Zornitza Stark reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680887, 31556760, 29057815; Phenotypes: Retinitis pigmentosa 69, MIM# 615780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.107 ZNF408 Zornitza Stark Marked gene: ZNF408 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.107 ZNF408 Zornitza Stark Gene: znf408 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.107 ZNF408 Zornitza Stark Phenotypes for gene: ZNF408 were changed from Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR) to Retinitis pigmentosa 72, MIM# 616469
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.106 ZNF408 Zornitza Stark Publications for gene: ZNF408 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.105 ZNF408 Zornitza Stark Mode of inheritance for gene: ZNF408 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 ZNF408 Zornitza Stark reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: None; Publications: 25882705, 34259982, 28095122; Phenotypes: Retinitis pigmentosa 72, MIM# 616469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark Marked gene: HKDC1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Marked gene: CERKL as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Gene: cerkl has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, 608380 to Retinitis pigmentosa 26, MIM# 608380
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.102 CERKL Zornitza Stark Publications for gene: CERKL were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.101 CERKL Zornitza Stark reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.101 FAM57B Zornitza Stark Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.100 FAM57B Zornitza Stark reviewed gene: FAM57B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 22, MIM# 619531; Mode of inheritance: None
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.100 IMPG1 Zornitza Stark Phenotypes for gene: IMPG1 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM# 153870
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.99 IMPG1 Zornitza Stark edited their review of gene: IMPG1: Changed phenotypes: Retinitis pigmentosa, MONDO:0019200, Retinitis pigmentosa 91, MIM# 153870
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.99 IMPG1 Zornitza Stark Marked gene: IMPG1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.99 IMPG1 Zornitza Stark Gene: impg1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.99 IMPG1 Zornitza Stark Classified gene: IMPG1 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.99 IMPG1 Zornitza Stark Gene: impg1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.98 IMPG1 Zornitza Stark gene: IMPG1 was added
gene: IMPG1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: IMPG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPG1 were set to 32817297
Phenotypes for gene: IMPG1 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: IMPG1 was set to AMBER
Added comment: Variants in this gene are classically associated with macular dystrophy.

However note recent paper by Olivier et al. 2021 (PMID: 32817297) who identified seven variants in IMPG1 (including five novel) in 11 families with VMD or retinitis pigmentosa (RP).

4 families were diagnosed with autosomal dominant RP, 2 families had autosomal recessive RP, while 5 families developed VMD in association with heterozygous IMPG1 variants. Notably, inter- and intrafamilial phenotypic variation was evident with some individuals presenting RP while others had VMD, despite harbouring the same IMPG1 variant.

Knockdown of Impg1 in medaka fish resulted in a phenotype consistent with that observed in human patients, including a decreased length of rod and cone photoreceptor outer segments.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.96 DYNC2H1 Ee Ming Wong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to PMID: 32753734
Phenotypes for gene: DYNC2H1 were set to non-syndromic retinitis pigmentosa
Review for gene: DYNC2H1 was set to GREEN
gene: DYNC2H1 was marked as current diagnostic
Added comment: - Five affected probands with homozygous and compound heterozygous missense and PTC variants
- Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies)
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.96 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.96 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.96 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR34 were set to 33124039
Phenotypes for gene: WDR34 were set to Retinitis pigmentosa
Review for gene: WDR34 was set to RED
Added comment: Single case report of association with RP. Gene-disease association well established for skeletal ciliopathy.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.95 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.95 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.95 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.94 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216056, 26968735; Phenotypes: Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.92 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Marked gene: SAG as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease-1, 258100; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.90 SAG Zornitza Stark Publications for gene: SAG were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.89 SAG Zornitza Stark Classified gene: SAG as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.89 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 SAG Zornitza Stark Tag founder tag was added to gene: SAG.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 SAG Zornitza Stark reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Marked gene: AMACR as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.87 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Review for gene: AMACR was set to GREEN
Added comment: Pigmentary retinopathy can be a presenting feature.
Sources: Expert Review
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.86 FAM57B Zornitza Stark Tag new gene name tag was added to gene: FAM57B.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.86 FAM57B Zornitza Stark Marked gene: FAM57B as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.86 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.86 FAM57B Chirag Patel Classified gene: FAM57B as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.86 FAM57B Chirag Patel Gene: fam57b has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.85 FAM57B Chirag Patel gene: FAM57B was added
gene: FAM57B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM57B were set to PMID: 33077892
Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy
Review for gene: FAM57B was set to GREEN
Added comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Classified gene: CRB2 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.83 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717
Phenotypes for gene: CRB2 were set to Retinitis pigmentosa
Review for gene: CRB2 was set to AMBER
Added comment: Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype.
Sources: Expert Review
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.82 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.82 DHDDS Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with multiple phenotypes, RP only reported in association with this founder Jewish Ashkenazi variant.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.82 DHDDS Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.82 DHDDS Zornitza Stark Classified gene: DHDDS as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.82 DHDDS Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.81 DHDDS Elena Savva reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32272552, 33077723; Phenotypes: Retinitis pigmentosa 59 MIM#613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.81 SEMA4A Zornitza Stark Marked gene: SEMA4A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.81 SEMA4A Zornitza Stark Gene: sema4a has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.81 SEMA4A Zornitza Stark Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.80 SEMA4A Zornitza Stark edited their review of gene: SEMA4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.80 SEMA4A Zornitza Stark changed review comment from: Bi-allelic variants: two families with RP reported in PMID 16199541, none since.

Mono-allelic variants: p.Arg713Gln reported in 4 individuals in PMID 16199541, however note this variant is present in >10,000 heterozygotes in gnomad and 299 homozygotes and did not segregate with disease in PMID 28805479.; to: Bi-allelic variants: two individuals with RP, and two with cone-rod dystrophy reported in PMID 16199541, none since.

Mono-allelic variants: p.Arg713Gln reported in 4 individuals in PMID 16199541, however note this variant is present in >10,000 heterozygotes in gnomad and 299 homozygotes and did not segregate with disease in PMID 28805479.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.80 SEMA4A Zornitza Stark Publications for gene: SEMA4A were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.79 SEMA4A Zornitza Stark Classified gene: SEMA4A as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.79 SEMA4A Zornitza Stark Gene: sema4a has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.78 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Retinitis pigmentosa 35, MIM# 610282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.78 RGR Zornitza Stark Marked gene: RGR as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.78 RGR Zornitza Stark Gene: rgr has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.78 RGR Zornitza Stark Publications for gene: RGR were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.77 RGR Zornitza Stark Classified gene: RGR as Red List (low evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.77 RGR Zornitza Stark Gene: rgr has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 RGR Zornitza Stark Tag disputed tag was added to gene: RGR.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 RGR Zornitza Stark reviewed gene: RGR: Rating: RED; Mode of pathogenicity: None; Publications: 10581022, 30347075, 27748892, 27623334; Phenotypes: Retinitis pigmentosa 44, MIM# 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 POMGNT1 Zornitza Stark edited their review of gene: POMGNT1: Changed phenotypes: Retinitis pigmentosa 76, MIM#617123
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.76 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Retinitis pigmentosa 76 to Retinitis pigmentosa 76, MIM#617123
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.75 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.74 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.74 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.74 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.74 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 SPATA7 Zornitza Stark reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM#604232, Autosomal recessive juvenile retinitis pigmentosa, MIM#604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 NEUROD1 Zornitza Stark Marked gene: NEUROD1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 NEUROD1 Zornitza Stark Gene: neurod1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 NEUROD1 Zornitza Stark Phenotypes for gene: NEUROD1 were changed from ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 NEUROD1 Zornitza Stark changed review comment from: Mono-allelic variants in this gene are associated with MODY.

Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals.; to: Mono-allelic variants in this gene are associated with MODY.

Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals. Functional data to support gene's role in retina.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 NEUROD1 Zornitza Stark edited their review of gene: NEUROD1: Changed rating: GREEN
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 NEUROD1 Zornitza Stark reviewed gene: NEUROD1: Rating: ; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.71 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.71 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.71 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 to Retinitis pigmentosa 71, MIM#616394
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.70 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.69 IFT172 Zornitza Stark reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168386, 29659833; Phenotypes: Retinitis pigmentosa 71, MIM# 616394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.69 DHX38 Zornitza Stark Marked gene: DHX38 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.69 DHX38 Zornitza Stark Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.69 DHX38 Zornitza Stark Phenotypes for gene: DHX38 were changed from Retinitis pigmentosa 84, 618220 to Retinitis pigmentosa 84, MIM#618220
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.68 DHX38 Zornitza Stark Publications for gene: DHX38 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.67 DHX38 Zornitza Stark Classified gene: DHX38 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.67 DHX38 Zornitza Stark Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 DHX38 Zornitza Stark reviewed gene: DHX38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24737827, 30208423; Phenotypes: Retinitis pigmentosa 84, MIM# 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 CCT2 Zornitza Stark Marked gene: CCT2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 CCT2 Zornitza Stark Gene: cct2 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 CCT2 Zornitza Stark gene: CCT2 was added
gene: CCT2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: NHS GMS
Mode of inheritance for gene: CCT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT2 were set to 27645772; 29450543
Phenotypes for gene: CCT2 were set to Leber's congenital amaurosis
Review for gene: CCT2 was set to RED
Added comment: Single family reported with compound het missense variants, functional data, including animal model.
Sources: NHS GMS
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Tag disputed tag was added to gene: SLC7A14.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Marked gene: SLC7A14 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Gene: slc7a14 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 Zornitza Stark Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa to Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.60 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.60 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.60 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa; Leber congenital amaurosis to Retinitis pigmentosa, MIM#619007; Leber congenital amaurosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 AHR Zornitza Stark Marked gene: AHR as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 AHR Zornitza Stark Added comment: Comment when marking as ready: Not sure if the second reported family really has RP phenotype.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 AHR Chern Lim reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31896775; Phenotypes: foveal hypoplasia and infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.58 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.57 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.56 IMPG2 Zornitza Stark reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56, MIM# MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.56 CLCC1 Zornitza Stark Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.55 CLCC1 Zornitza Stark reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30157172; Phenotypes: Retinitis pigmentosa 32, MIM# 609913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.55 Bryony Thompson removed gene:POC5 from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.54 Bryony Thompson removed gene:ZFYVE26 from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.53 Bryony Thompson removed gene:USH1C from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.52 SCLT1 Bryony Thompson gene: SCLT1 was added
gene: SCLT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 30425282
Phenotypes for gene: SCLT1 were set to Nonsyndromic retinitis pigmentosa
Review for gene: SCLT1 was set to RED
Added comment: One family reported with nonsyndromic RP.
Sources: Literature
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.51 SCAPER Bryony Thompson Classified gene: SCAPER as Red List (low evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.51 SCAPER Bryony Thompson Added comment: Comment on list classification: Gene is on the syndromic retinopathy panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.51 SCAPER Bryony Thompson Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.50 SCAPER Bryony Thompson Classified gene: SCAPER as Red List (low evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.50 SCAPER Bryony Thompson Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.49 SCAPER Bryony Thompson reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: None; Publications: 30561111; Phenotypes: Nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.49 SCAPER Bryony Thompson Deleted their review
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.49 Bryony Thompson removed gene:PHYH from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.47 Bryony Thompson removed gene:PEX7 from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.46 MVK Bryony Thompson Classified gene: MVK as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.46 MVK Bryony Thompson Gene: mvk has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 MVK Bryony Thompson reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: None
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 KCNJ13 Bryony Thompson Marked gene: KCNJ13 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 KCNJ13 Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 KCNJ13 Bryony Thompson Classified gene: KCNJ13 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 KCNJ13 Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.44 KCNJ13 Bryony Thompson gene: KCNJ13 was added
gene: KCNJ13 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: KCNJ13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ13 were set to 25921210; 21763485
Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16 MIM#614186
Review for gene: KCNJ13 was set to GREEN
Added comment: At least 3 families reported with homozygous variants and shRNA lentiviral mouse assays that recapitulate LCA phenotype.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.43 Bryony Thompson removed gene:EXOSC2 from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.42 CLN3 Bryony Thompson reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32441891, 30446867, 24154662; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.42 ARL6 Bryony Thompson Classified gene: ARL6 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.42 ARL6 Bryony Thompson Gene: arl6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.41 ARL6 Bryony Thompson reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: None; Publications: 28130426, 19956407; Phenotypes: Retinitis pigmentosa 55 MIM#613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.41 Bryony Thompson removed gene:ARL3 from the panel
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.40 AHI1 Bryony Thompson Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to nonsyndromic retinitis pigmentosa; Joubert syndrome 17
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.39 AHI1 Bryony Thompson Publications for gene: AHI1 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.38 ABHD12 Bryony Thompson Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to nonsyndromic retinitis pigmentosa; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.37 ABHD12 Bryony Thompson Publications for gene: ABHD12 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.36 USP45 Zornitza Stark Marked gene: USP45 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.36 USP45 Zornitza Stark Gene: usp45 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.35 USP45 Bryony Thompson Classified gene: USP45 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.35 USP45 Bryony Thompson Gene: usp45 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.34 USP45 Bryony Thompson gene: USP45 was added
gene: USP45 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Lebers congenital amaurosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.33 RCBTB1 Bryony Thompson Marked gene: RCBTB1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.33 RCBTB1 Bryony Thompson Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.33 RCBTB1 Bryony Thompson Classified gene: RCBTB1 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.33 RCBTB1 Bryony Thompson Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.32 RCBTB1 Bryony Thompson gene: RCBTB1 was added
gene: RCBTB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCBTB1 were set to 27486781
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies MIM#617175
Review for gene: RCBTB1 was set to GREEN
Added comment: Six families with retinal dystrophy with or without extraocular anomalies with homozygous missense variants. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.31 RBP4 Bryony Thompson Marked gene: RBP4 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.31 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.31 RBP4 Bryony Thompson Classified gene: RBP4 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.31 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.30 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 23189188; 9888420; 32323592
Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Review for gene: RBP4 was set to GREEN
Added comment: At least three families reported with arRP
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 NMNAT1 Bryony Thompson Marked gene: NMNAT1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 NMNAT1 Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 NMNAT1 Bryony Thompson Classified gene: NMNAT1 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 NMNAT1 Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.28 NMNAT1 Bryony Thompson gene: NMNAT1 was added
gene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 22842230; 17132048
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9 MIM#608553
Review for gene: NMNAT1 was set to GREEN
Added comment: At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.26 GDF6 Bryony Thompson Marked gene: GDF6 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.26 GDF6 Bryony Thompson Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.26 GDF6 Bryony Thompson Classified gene: GDF6 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.26 GDF6 Bryony Thompson Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.25 GDF6 Bryony Thompson gene: GDF6 was added
gene: GDF6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: GDF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF6 were set to 23307924
Phenotypes for gene: GDF6 were set to Leber congenital amaurosis 17 MIM#615360
Review for gene: GDF6 was set to AMBER
Added comment: One compound heterozygote and three cases with a single heterozygous variant where unaffected parent carrier status and allele frequency of variants in gnomAD suggest presence of a second unidentified allele. Supporting in vitro functional assays and retinal apoptosis is observed in both murine and zebrafish mutant models, a characteristic feature of human retinal dystrophies.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.24 CLCC1 Zornitza Stark Marked gene: CLCC1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.24 CLCC1 Zornitza Stark Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.24 CLCC1 Bryony Thompson Classified gene: CLCC1 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.24 CLCC1 Bryony Thompson Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.23 CLCC1 Bryony Thompson reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30157172; Phenotypes: retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.22 IDH3A Bryony Thompson Classified gene: IDH3A as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.22 IDH3A Bryony Thompson Gene: idh3a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.21 IDH3A Bryony Thompson gene: IDH3A was added
gene: IDH3A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa; Leber congenital amaurosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 POC5 Bryony Thompson Marked gene: POC5 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 POC5 Bryony Thompson Classified gene: POC5 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.17 POC5 Bryony Thompson gene: POC5 was added
gene: POC5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 29272404
Phenotypes for gene: POC5 were set to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Review for gene: POC5 was set to AMBER
Added comment: One case with a homozygous truncating variant and a supporting zebrafish model.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.16 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.16 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.15 ZFYVE26 Bryony Thompson reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 14409555; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.15 SLC7A14 Bryony Thompson Classified gene: SLC7A14 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.15 SLC7A14 Bryony Thompson Added comment: Comment on list classification: The animal models are compelling, but there currently is limited evidence in humans.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.15 SLC7A14 Bryony Thompson Gene: slc7a14 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.14 SLC7A14 Bryony Thompson reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: None; Publications: 31921845, 30924391, 24670872; Phenotypes: Retinitis pigmentosa 68 MIM#615725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.14 SAMD11 Bryony Thompson Classified gene: SAMD11 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.14 SAMD11 Bryony Thompson Added comment: Comment on list classification: Same variant in two families from the same region
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.14 SAMD11 Bryony Thompson Gene: samd11 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 SAMD11 Bryony Thompson reviewed gene: SAMD11: Rating: RED; Mode of pathogenicity: None; Publications: 27734943; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 ADIPOR1 Bryony Thompson Classified gene: ADIPOR1 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 ADIPOR1 Bryony Thompson Added comment: Comment on list classification: Additional cases required to validate the association and confirm the inheritance patterns.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 ADIPOR1 Bryony Thompson Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.12 ADIPOR1 Bryony Thompson reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26662040, 25736573, 30254279, 27655171; Phenotypes: Syndromic retinitis pigmentosa, non-syndromic retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.12 PMPCA Bryony Thompson reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2 MIM#213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.12 ZNF513 Bryony Thompson Classified gene: ZNF513 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.12 ZNF513 Bryony Thompson Gene: znf513 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.11 ZNF513 Bryony Thompson reviewed gene: ZNF513: Rating: AMBER; Mode of pathogenicity: None; Publications: 20797688; Phenotypes: ?Retinitis pigmentosa 58 MIM#613617; Mode of inheritance: None
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.11 NEK2 Bryony Thompson reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.11 AHR Bryony Thompson Classified gene: AHR as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.11 AHR Bryony Thompson Gene: ahr has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 AHR Bryony Thompson reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989; Phenotypes: ?Retinitis pigmentosa 85 MIM#618345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 ADGRA3 Bryony Thompson reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: None; Publications: 23105016; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 EMC1 Bryony Thompson reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29271071; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 SCAPER Bryony Thompson Classified gene: SCAPER as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.9 SCAPER Bryony Thompson gene: SCAPER was added
gene: SCAPER was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Review for gene: SCAPER was set to GREEN
Added comment: Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.7 EXOSC2 Bryony Thompson Classified gene: EXOSC2 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.7 EXOSC2 Bryony Thompson Gene: exosc2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.6 EXOSC2 Bryony Thompson gene: EXOSC2 was added
gene: EXOSC2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 26843489; 31628467
Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies MIM#617763
Review for gene: EXOSC2 was set to GREEN
Added comment: 3 patients from 2 unrelated German families with homozygous or compound heterozygous mutations (G30V, G198D), segregated with the disorder in both families. Drosophila model showed the gene is critical for eye development, and was rescued by the normal protein.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.5 CACNA1F Bryony Thompson Classified gene: CACNA1F as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.5 CACNA1F Bryony Thompson Gene: cacna1f has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.4 CACNA1F Bryony Thompson gene: CACNA1F was added
gene: CACNA1F was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CACNA1F were set to 26075273; 25999675
Phenotypes for gene: CACNA1F were set to X-linked retinitis pigmentosa
Review for gene: CACNA1F was set to GREEN
Added comment: Hemizygous variants mainly cause congenital stationary night blindness, cone-rod dystrophy, and Aland Island eye disease. At least 3 unrelated cases/families reported with RP.
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.3 Bryony Thompson Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH to Autosomal Recessive/X-Linked Retinitis Pigmentosa
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Marked gene: PLA2G5 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Classified gene: PLA2G5 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Added comment: Comment on list classification: Have features of RP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Marked gene: OAT as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Added comment: Comment on list classification: Can have features of RP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZNF513 Bryony Thompson gene: ZNF513 was added
gene: ZNF513 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF513 were set to Retinitis pigmentosa 58, 613617
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZNF408 Bryony Thompson gene: ZNF408 was added
gene: ZNF408 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF408 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 18394578
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Retinitis pigmentosa 39, 613809; Usher syndrome, type 2A, 276901
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TULP1 Bryony Thompson gene: TULP1 was added
gene: TULP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TRNT1 Bryony Thompson gene: TRNT1 was added
gene: TRNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SPATA7 Bryony Thompson gene: SPATA7 was added
gene: SPATA7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber Congenital Amaurosis; Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SLC7A14 Bryony Thompson gene: SLC7A14 was added
gene: SLC7A14 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SLC7A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A14 were set to 27028480; 24670872
Phenotypes for gene: SLC7A14 were set to Retinitis pigmentosa 68, 615725 (3)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SAMD11 Bryony Thompson gene: SAMD11 was added
gene: SAMD11 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD11 were set to 27734943
Phenotypes for gene: SAMD11 were set to Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi disease-1, 258100; Retinitis pigmentosa 47
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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)
Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020; Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Retinitis pigmentosa 3, 300029
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP2 Bryony Thompson gene: RP2 was added
gene: RP2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis Pigmentosa, X-linked; Retinitis pigmentosa 2, 312600
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RP1L1 were set to 31833436; 31236346; 30025130
Phenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP1 Bryony Thompson gene: RP1 was added
gene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Retinitis punctata albescens; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Bothnia retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Retinitis punctata albescens; Congenital Stationary Night Blindness
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RGR Bryony Thompson gene: RGR was added
gene: RGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RGR were set to Retinitis pigmentosa 44, 613769
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 REEP6 Bryony Thompson gene: REEP6 was added
gene: REEP6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa, Recessive
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RD3 Bryony Thompson gene: RD3 was added
gene: RD3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP3 were set to 19074801; 25766589; 19357286; 9614228
Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66, 615233
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PRCD Bryony Thompson gene: PRCD was added
gene: PRCD was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRCD were set to Retinitis pigmentosa 36, 610599
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Retinitis pigmentosa 76
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PLA2G5 Bryony Thompson gene: PLA2G5 was added
gene: PLA2G5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G5 were set to Fleck retina, familial benign
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6G Bryony Thompson gene: PDE6G was added
gene: PDE6G was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to Retinitis pigmentosa 57, 613582
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6A Bryony Thompson gene: PDE6A was added
gene: PDE6A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6A were set to Retinitis pigmentosa 43, 613810
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 C2orf71 Bryony Thompson gene: C2orf71 was added
gene: C2orf71 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to Retinitis pigmentosa 54
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OFD1 were set to 28191358; 22619378; 29843741
Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NRL Bryony Thompson gene: NRL was added
gene: NRL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NRL were set to Retinitis pigmentosa 27 (AD); Retinal degeneration, autosomal recessive, clumped pigment type (AR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NR2E3 Bryony Thompson gene: NR2E3 was added
gene: NR2E3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977
Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NEK2 Bryony Thompson gene: NEK2 was added
gene: NEK2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: NEK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK2 were set to 24043777
Phenotypes for gene: NEK2 were set to ?Retinitis pigmentosa 67, 615565
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria; Hyper-IgD syndrome
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MFRP Bryony Thompson gene: MFRP was added
gene: MFRP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MERTK Bryony Thompson gene: MERTK was added
gene: MERTK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MAK Bryony Thompson gene: MAK was added
gene: MAK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAK were set to Retinitis pigmentosa 62, 614181
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 LRAT Bryony Thompson gene: LRAT was added
gene: LRAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber Congenital Amaurosis; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile; Retinal dystrophy, early-onset severe, 613341
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 LCA5 Bryony Thompson gene: LCA5 was added
gene: LCA5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 KIZ Bryony Thompson gene: KIZ was added
gene: KIZ was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIZ were set to Retinitis pigmentosa 69
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 KIAA1549 Bryony Thompson gene: KIAA1549 was added
gene: KIAA1549 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1549 were set to Retinitis pigmentosa 86
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581; Maculopathy, IMPG2 - related; Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IFT172 Bryony Thompson gene: IFT172 was added
gene: IFT172 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IFT140 Bryony Thompson gene: IFT140 was added
gene: IFT140 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IDH3B Bryony Thompson gene: IDH3B was added
gene: IDH3B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 HGSNAT Bryony Thompson gene: HGSNAT was added
gene: HGSNAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 GUCY2D Bryony Thompson gene: GUCY2D was added
gene: GUCY2D was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1, 204000; Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 FAM161A Bryony Thompson gene: FAM161A was added
gene: FAM161A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 EYS Bryony Thompson gene: EYS was added
gene: EYS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EYS were set to Retinitis pigmentosa 25, 602772
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 EMC1 Bryony Thompson gene: EMC1 was added
gene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 29271071; 23105016
Phenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 DHX38 Bryony Thompson gene: DHX38 was added
gene: DHX38 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were set to Retinitis pigmentosa 84, 618220
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 DHDDS Bryony Thompson gene: DHDDS was added
gene: DHDDS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CYP4V2 Bryony Thompson gene: CYP4V2 was added
gene: CYP4V2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP4V2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4V2 were set to Retinitis pigmentosa; Bietti crystalline corneoretinal dystrophy, 210370
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CWC27 Bryony Thompson gene: CWC27 was added
gene: CWC27 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CNGB1 Bryony Thompson gene: CNGB1 was added
gene: CNGB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB1 were set to Retinitis pigmentosa 45, 613767
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CNGA1 Bryony Thompson gene: CNGA1 was added
gene: CNGA1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CNGA1 were set to Retinitis pigmentosa 49, 613756
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Retinitis pigmentosa 61, 614180
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Retinitis pigmentosa; Juvenile neuronal ceroid lipofuscinosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCC1 were set to 30157172
Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CHM Bryony Thompson gene: CHM was added
gene: CHM was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CHM were set to Retinitis pigmentosa; Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CDHR1 Bryony Thompson gene: CDHR1 was added
gene: CDHR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDHR1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-Rod Dystrophy, Recessive; Retinitis pigmentosa 65; Cone-rod dystrophy 15, 613660
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 C8orf37 Bryony Thompson gene: C8orf37 was added
gene: C8orf37 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Retinitis pigmentosa 64, 614500
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Maculopathy, bull's-eye; Best Vitelliform Macular Dystrophy; Best macular dystrophy, 153700; Vitreoretinochoroidopathy, 193220; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Bestrophinopathy, 611809; Vitelliform macular dystrophy, adult-onset, 608161
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL2BP Bryony Thompson gene: ARL2BP was added
gene: ARL2BP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus, 615434
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARHGEF18 Bryony Thompson gene: ARHGEF18 was added
gene: ARHGEF18 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARHGEF18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARHGEF18 were set to Retinitis pigmentosa 78 617433
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AIPL1 Bryony Thompson gene: AIPL1 was added
gene: AIPL1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AHR Bryony Thompson gene: AHR was added
gene: AHR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 29726989
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 17
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AGBL5 Bryony Thompson gene: AGBL5 was added
gene: AGBL5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75 617023
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ADGRA3 Bryony Thompson gene: ADGRA3 was added
gene: ADGRA3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRA3 were set to 23105016
Phenotypes for gene: ADGRA3 were set to retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Macular Degeneration (Dominant); Stargardt disease 1, 248200; Macular degeneration, age-related, 2, 153800; Achromatopsia, Cone, and Cone-rod Dystrophy; Retinal dystrophy, early-onset severe, 248200; Stargardt Disease, Recessive; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular Dystrophy/Degeneration/Stargardt Disease; Fundus flavimaculatus, 248200
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812
Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 Bryony Thompson Added panel Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH