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Retinitis pigmentosa_Autosomal Dominant v0.57 VWA8 Zornitza Stark Phenotypes for gene: VWA8 were changed from Retinitis pigmentosa (MONDO:0019200), VWA8-related to Retinitis pigmentosa 97, MIM#620422
Retinitis pigmentosa_Autosomal Dominant v0.56 VWA8 Zornitza Stark reviewed gene: VWA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 97, MIM#620422; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.56 VWA8 Seb Lunke Marked gene: VWA8 as ready
Retinitis pigmentosa_Autosomal Dominant v0.56 VWA8 Seb Lunke Gene: vwa8 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.56 VWA8 Seb Lunke Classified gene: VWA8 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Dominant v0.56 VWA8 Seb Lunke Gene: vwa8 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.55 VWA8 Dean Phelan gene: VWA8 was added
gene: VWA8 was added to Retinitis pigmentosa_Autosomal Dominant. Sources: Literature
Mode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VWA8 were set to PMID: 37012052
Phenotypes for gene: VWA8 were set to Retinitis pigmentosa (MONDO:0019200), VWA8-related
Review for gene: VWA8 was set to AMBER
Added comment: PMID: 37012052
- Single family with 11 affected patients, 9 - 87y, all presented initial symptoms of night blindness, visual field defects and reduced visual acuity later, macular changes, including macular degeneration and dystrophy. A heterozygous two-loci variant in VWA8 c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter) was identified and segregated with disease. Expression studies showed reduced protein expression. Zebrafish knockout model displayed an RP phenotype.
Sources: Literature
Retinitis pigmentosa_Autosomal Dominant v0.55 SAG Zornitza Stark edited their review of gene: SAG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.55 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.54 SAG Zornitza Stark changed review comment from: Autosomal recessive, homozygous founder variant.; to: Multiple families with same variant: founder effect?
Retinitis pigmentosa_Autosomal Dominant v0.54 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 Dominant v0.53 RP9 Zornitza Stark Marked gene: RP9 as ready
Retinitis pigmentosa_Autosomal Dominant v0.53 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.53 RP9 Zornitza Stark Publications for gene: RP9 were set to
Retinitis pigmentosa_Autosomal Dominant v0.52 RP9 Zornitza Stark Classified gene: RP9 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.52 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.51 RP1 Belinda Chong reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391211, 10391211, 29425069; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Retinitis pigmentosa_Autosomal Dominant v0.51 RP1 Belinda Chong Deleted their review
Retinitis pigmentosa_Autosomal Dominant v0.51 RP1 Belinda Chong commented on gene: RP1: RPI refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting. Retinitis pigmentosa-1 (RP1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the ORP1 gene (RP1).

Dominant inheritance form(s) in 3 to 4% of cases
Retinitis pigmentosa_Autosomal Dominant v0.51 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 Dominant v0.51 GUCA1B Zornitza Stark Tag founder tag was added to gene: GUCA1B.
Retinitis pigmentosa_Autosomal Dominant v0.51 GUCA1B Zornitza Stark Marked gene: GUCA1B as ready
Retinitis pigmentosa_Autosomal Dominant v0.51 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.51 GUCA1B Zornitza Stark Phenotypes for gene: GUCA1B were changed from Retinitis pigmentosa 48, 613827 to Retinitis pigmentosa 48, MIM#613827
Retinitis pigmentosa_Autosomal Dominant v0.50 GUCA1B Zornitza Stark Publications for gene: GUCA1B were set to
Retinitis pigmentosa_Autosomal Dominant v0.49 GUCA1B Zornitza Stark Mode of inheritance for gene: GUCA1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.48 GUCA1B Zornitza Stark Classified gene: GUCA1B as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Dominant v0.48 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.47 GUCA1B Zornitza Stark reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.47 RP9 Belinda Chong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: None; Publications: 16799052, 16671097; Phenotypes: ?Retinitis pigmentosa 9 MIM#180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.47 RPE65 Belinda Chong reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: Retinitis pigmentosa 87 with choroidal involvement MIM#618697; Phenotypes: 21654732, 27307694, 27307694; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.47 PRPF3 Zornitza Stark Marked gene: PRPF3 as ready
Retinitis pigmentosa_Autosomal Dominant v0.47 PRPF3 Zornitza Stark Gene: prpf3 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.47 PRPF3 Zornitza Stark Phenotypes for gene: PRPF3 were changed from Retinitis pigmentosa 18 to Retinitis pigmentosa 18, MIM# 601414
Retinitis pigmentosa_Autosomal Dominant v0.46 PRPF3 Zornitza Stark Publications for gene: PRPF3 were set to
Retinitis pigmentosa_Autosomal Dominant v0.45 PRPF3 Zornitza Stark Mode of inheritance for gene: PRPF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.44 PRPF3 Zornitza Stark reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11773002, 27886254; Phenotypes: Retinitis pigmentosa 18, MIM# 601414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.44 PRPF4 Zornitza Stark Marked gene: PRPF4 as ready
Retinitis pigmentosa_Autosomal Dominant v0.44 PRPF4 Zornitza Stark Gene: prpf4 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.44 PRPF4 Zornitza Stark Phenotypes for gene: PRPF4 were changed from Retinitis pigmentosa 70 to Retinitis pigmentosa 70, MIM# 615922
Retinitis pigmentosa_Autosomal Dominant v0.43 PRPF4 Zornitza Stark Publications for gene: PRPF4 were set to
Retinitis pigmentosa_Autosomal Dominant v0.42 PRPF4 Zornitza Stark Mode of inheritance for gene: PRPF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.41 PRPF4 Zornitza Stark reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24419317, 25383878; Phenotypes: Retinitis pigmentosa 70, MIM# 615922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.41 PRPF6 Zornitza Stark Marked gene: PRPF6 as ready
Retinitis pigmentosa_Autosomal Dominant v0.41 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.41 PRPF6 Zornitza Stark Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, MIM# 613983
Retinitis pigmentosa_Autosomal Dominant v0.40 PRPF6 Zornitza Stark Publications for gene: PRPF6 were set to
Retinitis pigmentosa_Autosomal Dominant v0.39 PRPF6 Zornitza Stark Mode of inheritance for gene: PRPF6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.38 PRPF6 Zornitza Stark Classified gene: PRPF6 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Dominant v0.38 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.37 PRPF6 Zornitza Stark edited their review of gene: PRPF6: Changed rating: AMBER
Retinitis pigmentosa_Autosomal Dominant v0.37 PRPF6 Zornitza Stark reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.37 C1QTNF5 Ain Roesley Marked gene: C1QTNF5 as ready
Retinitis pigmentosa_Autosomal Dominant v0.37 C1QTNF5 Ain Roesley Gene: c1qtnf5 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.37 C1QTNF5 Ain Roesley Phenotypes for gene: C1QTNF5 were changed from Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670 to Retinal degeneration, late-onset, autosomal dominant MIM#605670
Retinitis pigmentosa_Autosomal Dominant v0.36 C1QTNF5 Ain Roesley Publications for gene: C1QTNF5 were set to
Retinitis pigmentosa_Autosomal Dominant v0.35 C1QTNF5 Ain Roesley Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Retinitis pigmentosa_Autosomal Dominant v0.34 C1QTNF5 Ain Roesley reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Marked gene: FSCN2 as ready
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Marked gene: IMPDH1 as ready
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Retinitis pigmentosa_Autosomal Dominant v0.32 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.31 PRPF31 Zornitza Stark Marked gene: PRPF31 as ready
Retinitis pigmentosa_Autosomal Dominant v0.31 PRPF31 Zornitza Stark Gene: prpf31 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.31 PRPF31 Zornitza Stark Publications for gene: PRPF31 were set to
Retinitis pigmentosa_Autosomal Dominant v0.30 PRPF31 Zornitza Stark Mode of inheritance for gene: PRPF31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.29 PRPF31 Zornitza Stark Tag SV/CNV tag was added to gene: PRPF31.
Retinitis pigmentosa_Autosomal Dominant v0.29 PRPF31 Ain Roesley reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: None; Publications: 32014492; Phenotypes: Retinitis pigmentosa 11, (MIM#600138),; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.29 IMPG1 Zornitza Stark Marked gene: IMPG1 as ready
Retinitis pigmentosa_Autosomal Dominant v0.29 IMPG1 Zornitza Stark Gene: impg1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.29 IMPG1 Zornitza Stark Classified gene: IMPG1 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Dominant v0.29 IMPG1 Zornitza Stark Gene: impg1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.28 IMPG1 Zornitza Stark gene: IMPG1 was added
gene: IMPG1 was added to Retinitis pigmentosa_Autosomal Dominant. Sources: Literature
Mode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 GREEN
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 Dominant v0.27 SAG Zornitza Stark Marked gene: SAG as ready
Retinitis pigmentosa_Autosomal Dominant v0.27 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.27 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758
Retinitis pigmentosa_Autosomal Dominant v0.26 SAG Zornitza Stark Publications for gene: SAG were set to 28549094
Retinitis pigmentosa_Autosomal Dominant v0.25 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Dominant v0.24 SAG Zornitza Stark Classified gene: SAG as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.24 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.23 SAG Zornitza Stark reviewed gene: SAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Dominant v0.23 SAG Ain Roesley reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa; Mode of inheritance: None
Retinitis pigmentosa_Autosomal Dominant v0.23 SEMA4A Zornitza Stark Tag refuted tag was added to gene: SEMA4A.
Retinitis pigmentosa_Autosomal Dominant v0.23 SEMA4A Zornitza Stark Marked gene: SEMA4A as ready
Retinitis pigmentosa_Autosomal Dominant v0.23 SEMA4A Zornitza Stark Gene: sema4a has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.23 SEMA4A Zornitza Stark Publications for gene: SEMA4A were set to
Retinitis pigmentosa_Autosomal Dominant v0.22 SEMA4A Zornitza Stark Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinitis pigmentosa_Autosomal Dominant v0.21 SEMA4A Zornitza Stark Classified gene: SEMA4A as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.21 SEMA4A Zornitza Stark Gene: sema4a has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.20 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Retinitis pigmentosa 35, MIM# 610282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.19 HK1 Zornitza Stark Marked gene: HK1 as ready
Retinitis pigmentosa_Autosomal Dominant v0.19 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.19 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79 617460 to Retinitis pigmentosa 79, MIM# 617460
Retinitis pigmentosa_Autosomal Dominant v0.18 HK1 Zornitza Stark Publications for gene: HK1 were set to 25316723; 25190649; 31621442; 32814480
Retinitis pigmentosa_Autosomal Dominant v0.17 HK1 Zornitza Stark Publications for gene: HK1 were set to
Retinitis pigmentosa_Autosomal Dominant v0.16 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316723, 25190649, 31621442, 32814480; Phenotypes: Retinitis pigmentosa 79, MIM# 617460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.16 CA4 Zornitza Stark Marked gene: CA4 as ready
Retinitis pigmentosa_Autosomal Dominant v0.16 CA4 Zornitza Stark Gene: ca4 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.16 CA4 Zornitza Stark Publications for gene: CA4 were set to
Retinitis pigmentosa_Autosomal Dominant v0.15 CA4 Zornitza Stark Tag disputed tag was added to gene: CA4.
Retinitis pigmentosa_Autosomal Dominant v0.15 CA4 Zornitza Stark Classified gene: CA4 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.15 CA4 Zornitza Stark Gene: ca4 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.14 CA4 Zornitza Stark changed review comment from: PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad.
PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad.
PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad.

Mouse model does not have an eye phenotype.; to: PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad.
PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad.
PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad.

Mouse model does not have an eye phenotype.

In the absence of other supporting data, the relatively high frequency of the reported variants raises significant concerns about the validity of this gene-disease relationship.
Retinitis pigmentosa_Autosomal Dominant v0.14 CA4 Zornitza Stark reviewed gene: CA4: Rating: RED; Mode of pathogenicity: None; Publications: 15563508, 15090652, 17652713, 16260723; Phenotypes: Retinitis pigmentosa 17, MIM# 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.14 ROM1 Zornitza Stark Marked gene: ROM1 as ready
Retinitis pigmentosa_Autosomal Dominant v0.14 ROM1 Zornitza Stark Gene: rom1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.14 ROM1 Zornitza Stark Publications for gene: ROM1 were set to
Retinitis pigmentosa_Autosomal Dominant v0.13 ROM1 Zornitza Stark Mode of inheritance for gene: ROM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.12 ROM1 Zornitza Stark reviewed gene: ROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32036094, 8202715, 30630813, 24618324, 20300562, 32716032; Phenotypes: Retinitis pigmentosa 7, digenic form, MIM# 608133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.12 Zornitza Stark Panel name changed from Autosomal Dominant Retinitis Pigmentosa to Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Dominant v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa_Autosomal Dominant v0.9 ARL3 Bryony Thompson Classified gene: ARL3 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Dominant v0.9 ARL3 Bryony Thompson Gene: arl3 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.8 ARL3 Bryony Thompson reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26964041, 30932721; Phenotypes: Retinitis pigmentosa 83 MIM#618173; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.7 PRKCG Bryony Thompson gene: PRKCG was added
gene: PRKCG was added to Autosomal Dominant Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 9545390; 16828200
Phenotypes for gene: PRKCG were set to Retinitis pigmentosa 11 MIM#600138
Retinitis pigmentosa_Autosomal Dominant v0.4 SPP2 Bryony Thompson Classified gene: SPP2 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.4 SPP2 Bryony Thompson Gene: spp2 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.3 SPP2 Bryony Thompson reviewed gene: SPP2: Rating: RED; Mode of pathogenicity: None; Publications: 26459573; Phenotypes: Retinitis pigmentosa; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.2 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.2 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.1 PITPNM3 Bryony Thompson reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Dominant v0.1 Bryony Thompson Panel name changed from Autosomal Dominant Retinitis Pigmentosa_RMH to Autosomal Dominant Retinitis Pigmentosa
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa_Autosomal Dominant v0.0 TOPORS Bryony Thompson gene: TOPORS was added
gene: TOPORS was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, 609923
Retinitis pigmentosa_Autosomal Dominant v0.0 SPP2 Bryony Thompson gene: SPP2 was added
gene: SPP2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPP2 were set to 26459573
Phenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa
Retinitis pigmentosa_Autosomal Dominant v0.0 SNRNP200 Bryony Thompson gene: SNRNP200 was added
gene: SNRNP200 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNRNP200 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRNP200 were set to Retinitis pigmentosa 33, 610359
Retinitis pigmentosa_Autosomal Dominant v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Autosomal Dominant 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 Dominant v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SAG were set to 28549094
Phenotypes for gene: SAG were set to Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47
Retinitis pigmentosa_Autosomal Dominant v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100
Retinitis pigmentosa_Autosomal Dominant v0.0 RP9 Bryony Thompson gene: RP9 was added
gene: RP9 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104
Retinitis pigmentosa_Autosomal Dominant v0.0 RP1 Bryony Thompson gene: RP1 was added
gene: RP1 was added to Autosomal Dominant 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 Dominant v0.0 ROM1 Bryony Thompson gene: ROM1 was added
gene: ROM1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133
Retinitis pigmentosa_Autosomal Dominant v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Autosomal Dominant 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; Congenital Stationary Night Blindness
Retinitis pigmentosa_Autosomal Dominant v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRPH2 were set to Retinitis pigmentosa 7
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF8 Bryony Thompson gene: PRPF8 was added
gene: PRPF8 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF8 were set to Retinitis pigmentosa 13, 600059
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF6 Bryony Thompson gene: PRPF6 was added
gene: PRPF6 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF6 were set to Retinitis pigmentosa 60, 613983
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF4 Bryony Thompson gene: PRPF4 was added
gene: PRPF4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF4 were set to Retinitis pigmentosa 70
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF31 Bryony Thompson gene: PRPF31 was added
gene: PRPF31 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF3 Bryony Thompson gene: PRPF3 was added
gene: PRPF3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18
Retinitis pigmentosa_Autosomal Dominant v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 22405330; 17377520
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Retinitis pigmentosa_Autosomal Dominant v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Autosomal Dominant 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 Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa 40
Retinitis pigmentosa_Autosomal Dominant v0.0 NRL Bryony Thompson gene: NRL was added
gene: NRL was added to Autosomal Dominant 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, 613750
Retinitis pigmentosa_Autosomal Dominant v0.0 NR2E3 Bryony Thompson gene: NR2E3 was added
gene: NR2E3 was added to Autosomal Dominant 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 Dominant v0.0 KLHL7 Bryony Thompson gene: KLHL7 was added
gene: KLHL7 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLHL7 were set to Retinitis pigmentosa 42, 612943
Retinitis pigmentosa_Autosomal Dominant v0.0 IMPDH1 Bryony Thompson gene: IMPDH1 was added
gene: IMPDH1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IMPDH1 were set to Retinitis pigmentosa 10, 180105; Leber Congenital Amaurosis; Leber congenital amaurosis 11
Retinitis pigmentosa_Autosomal Dominant v0.0 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HK1 were set to Retinitis pigmentosa 79 617460
Retinitis pigmentosa_Autosomal Dominant v0.0 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827
Retinitis pigmentosa_Autosomal Dominant v0.0 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FSCN2 were set to 16043865; 18450588
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921
Retinitis pigmentosa_Autosomal Dominant v0.0 CRX Bryony Thompson gene: CRX was added
gene: CRX was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829
Retinitis pigmentosa_Autosomal Dominant v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BOTH monoallelic and 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 Dominant v0.0 CA4 Bryony Thompson gene: CA4 was added
gene: CA4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852
Retinitis pigmentosa_Autosomal Dominant v0.0 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1QTNF5 were set to Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670
Retinitis pigmentosa_Autosomal Dominant v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Autosomal Dominant 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 Dominant v0.0 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Autosomal Dominant 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 Dominant v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Autosomal Dominant 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 Dominant v0.0 Bryony Thompson Added panel Autosomal Dominant Retinitis Pigmentosa_RMH