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Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Marked gene: UBAP1L as ready
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Gene: ubap1l has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Classified gene: UBAP1L as Green List (high evidence)
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Gene: ubap1l has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.53 UBAP1L Ee Ming Wong gene: UBAP1L was added
gene: UBAP1L was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: UBAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBAP1L were set to PMID: 38293907; 38420906
Phenotypes for gene: UBAP1L were set to Cone-rod dystrophy (MONDO:0015993), UBAP1L-related
Review for gene: UBAP1L was set to GREEN
gene: UBAP1L was marked as current diagnostic
Added comment: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy
- Reported variants included splice, nonsense, frameshift and in-frame del variants
- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later.
Sources: Literature
Cone-rod Dystrophy v0.53 UNC119 Zornitza Stark Mode of inheritance for gene: UNC119 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.52 UNC119 Zornitza Stark Classified gene: UNC119 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.52 UNC119 Zornitza Stark Gene: unc119 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.51 UNC119 Zornitza Stark edited their review of gene: UNC119: Added comment: One of the variants reported is missense with no other supporting information.; Changed rating: AMBER
Cone-rod Dystrophy v0.51 MIR204 Elena Savva Marked gene: MIR204 as ready
Cone-rod Dystrophy v0.51 MIR204 Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.51 MIR204 Elena Savva Classified gene: MIR204 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.51 MIR204 Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.50 MIR204 Chern Lim gene: MIR204 was added
gene: MIR204 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Review for gene: MIR204 was set to AMBER
gene: MIR204 was marked as current diagnostic
Added comment: PMID: 26056285
- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.
- Heterozygous n.37C>T segregates with the disease in all affected individuals.
- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family.
- Authors suggested gain of function is the likely disease mechanism.

PMID: 37321975
- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.
- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.
- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.
- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant.
Sources: Literature
Cone-rod Dystrophy v0.50 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy, MONDO:0015993 to Cone-rod dystrophy 24, MIM# 620342
Cone-rod Dystrophy v0.49 UNC119 Zornitza Stark reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 24, MIM# 620342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.49 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to 30679166; 16909397; 18235024; 21882291
Cone-rod Dystrophy v0.48 KCNV2 Achchuthan Shanmugasundram changed review comment from: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR. KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420).; to: Additional cases: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR.

Functional studies: KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420).
Cone-rod Dystrophy v0.48 KCNV2 Achchuthan Shanmugasundram reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.48 Zornitza Stark List of related panels changed from to Retinal dystrophy; HP:0000556
Cone-rod Dystrophy v0.47 GUCA1A Zornitza Stark Marked gene: GUCA1A as ready
Cone-rod Dystrophy v0.47 GUCA1A Zornitza Stark Gene: guca1a has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.47 GUCA1A Zornitza Stark Phenotypes for gene: GUCA1A were changed from Cone dystrophy-3, 602093 to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093
Cone-rod Dystrophy v0.46 GUCA1A Zornitza Stark Publications for gene: GUCA1A were set to 30679166
Cone-rod Dystrophy v0.45 GUCA1A Zornitza Stark Mode of inheritance for gene: GUCA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.44 GUCA1A Zornitza Stark reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.44 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11 to Cone-rod dystrophy 11, MIM# 610381
Cone-rod Dystrophy v0.43 RAX2 Zornitza Stark Publications for gene: RAX2 were set to 30679166
Cone-rod Dystrophy v0.42 RAX2 Zornitza Stark Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.41 RAX2 Zornitza Stark reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Marked gene: RAB28 as ready
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Gene: rab28 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Publications for gene: RAB28 were set to 30679166
Cone-rod Dystrophy v0.40 RAB28 Crystle Lee reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.40 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Marked gene: OPN1MW as ready
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Phenotypes for gene: OPN1MW were changed from Blue cone monochromacy MIM#303700; Colorblindness, deutan MIM#303800 to Blue cone monochromacy MIM#303700; Colourblindness, deutan MIM#303800
Cone-rod Dystrophy v0.39 OPN1MW Zornitza Stark Publications for gene: OPN1MW were set to 30679166
Cone-rod Dystrophy v0.38 OPN1MW Zornitza Stark Classified gene: OPN1MW as Amber List (moderate evidence)
Cone-rod Dystrophy v0.38 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.37 OPN1MW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1MW.
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy MIM#303700; Colorblindness, protan MIM#303900 to Blue cone monochromacy MIM#303700; Colourblindness, protan MIM#303900
Cone-rod Dystrophy v0.36 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to 30679166
Cone-rod Dystrophy v0.35 OPN1LW Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence)
Cone-rod Dystrophy v0.35 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.34 OPN1LW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW.
Cone-rod Dystrophy v0.34 OPN1MW Krithika Murali reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cone-rod Dystrophy v0.34 OPN1LW Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Marked gene: UNC119 as ready
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Publications for gene: UNC119 were set to 30679166
Cone-rod Dystrophy v0.33 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from ?Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Marked gene: KCNV2 as ready
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to 30679166
Cone-rod Dystrophy v0.31 KCNV2 Zornitza Stark reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291; Phenotypes: Retinal cone dystrophy 3B, MIM# 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.31 FAM57B Zornitza Stark Marked gene: FAM57B as ready
Cone-rod Dystrophy v0.31 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.31 FAM57B Zornitza Stark Classified gene: FAM57B as Green List (high evidence)
Cone-rod Dystrophy v0.31 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.30 FAM57B Zornitza Stark gene: FAM57B was added
gene: FAM57B was added to Cone-rod Dystrophy. Sources: Expert Review
new gene name tags were added to gene: FAM57B.
Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM57B were set to 33077892
Phenotypes for gene: FAM57B were set to Cone-rod dystrophy 22, MIM# 619531; 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: Expert Review
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Classified gene: IRX5 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.28 IRX5 Zornitza Stark gene: IRX5 was added
gene: IRX5 was added to Cone-rod Dystrophy. Sources: Literature
SV/CNV tags were added to gene: IRX5.
Mode of inheritance for gene: IRX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX5 were set to 33891002; 28041643; 32045705; 22581230; 17230486
Phenotypes for gene: IRX5 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX5 was set to Other
Review for gene: IRX5 was set to AMBER
Added comment: Evidence from CNVs only

Duplication of gene
-------------------
PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Loss of function/gene
---------
PMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.

PMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).
Sources: Literature
Cone-rod Dystrophy v0.27 IRX6 Zornitza Stark Mode of pathogenicity for gene: IRX6 was changed from None to Other
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Marked gene: IRX6 as ready
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Classified gene: IRX6 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark Tag SV/CNV tag was added to gene: IRX6.
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark gene: IRX6 was added
gene: IRX6 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Review for gene: IRX6 was set to AMBER
Added comment: PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Evidence from CNVs only, two genes included.
Sources: Literature
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark changed review comment from: 7 families also reported with isolated retinal dystrophy.; to: 7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to 30679166
Cone-rod Dystrophy v0.23 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26294103, 23105016, 27548899; Phenotypes: Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.23 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Cone-rod retinopathy; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Cone-rod retinopathy; cardiomyopathy
Cone-rod Dystrophy v0.22 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Cone-rod Dystrophy v0.22 SEMA4A Zornitza Stark Marked gene: SEMA4A as ready
Cone-rod Dystrophy v0.22 SEMA4A Zornitza Stark Gene: sema4a has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.22 SEMA4A Zornitza Stark Publications for gene: SEMA4A were set to 30679166
Cone-rod Dystrophy v0.21 SEMA4A Zornitza Stark Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.20 SEMA4A Zornitza Stark Classified gene: SEMA4A as Amber List (moderate evidence)
Cone-rod Dystrophy v0.20 SEMA4A Zornitza Stark Gene: sema4a has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.19 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.19 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Cone-rod Dystrophy v0.19 PDE6H Zornitza Stark Gene: pde6h has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.19 PDE6H Zornitza Stark Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024 to Retinal Cone Dystrophy 3, 610024
Cone-rod Dystrophy v0.18 PDE6H Zornitza Stark Publications for gene: PDE6H were set to 30679166
Cone-rod Dystrophy v0.17 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.16 PDE6H Zornitza Stark Classified gene: PDE6H as Red List (low evidence)
Cone-rod Dystrophy v0.16 PDE6H Zornitza Stark Gene: pde6h has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.15 PDE6H Zornitza Stark reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: None; Publications: 15629837, 22901948; Phenotypes: Retinal cone dystrophy 3, MIM# 610024; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.14 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cone-rod Dystrophy v0.13 Bryony Thompson removed gene:CEP78 from the panel
Cone-rod Dystrophy v0.11 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Cone-rod Dystrophy v0.11 VSX2 Zornitza Stark Gene: vsx2 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.11 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Cone-rod Dystrophy v0.11 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.11 OPN1SW Zornitza Stark Marked gene: OPN1SW as ready
Cone-rod Dystrophy v0.11 OPN1SW Zornitza Stark Gene: opn1sw has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.11 VSX2 Bryony Thompson gene: VSX2 was added
gene: VSX2 was added to Cone-rod Dystrophy. Sources: Expert list
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VSX2 were set to 24001013
Phenotypes for gene: VSX2 were set to smooth irides; lens subluxation; cone-rod dysfunction; high myopia
Review for gene: VSX2 was set to RED
Added comment: Single consanguineous case reported with cone-rod dysfunction as a feature of a retinal phenotype.
Sources: Expert list
Cone-rod Dystrophy v0.9 SLC6A6 Bryony Thompson Classified gene: SLC6A6 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.9 SLC6A6 Bryony Thompson Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.8 SLC6A6 Bryony Thompson gene: SLC6A6 was added
gene: SLC6A6 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Cone-rod retinopathy; cardiomyopathy
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Marked gene: RIMS1 as ready
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Gene: rims1 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Classified gene: RIMS1 as Red List (low evidence)
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Gene: rims1 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Added comment: Comment on list classification: No convincing evidence and no recent reports
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.4 PITPNM3 Bryony Thompson edited their review of gene: PITPNM3: Changed publications: 17377520, 22405330, 20590364
Cone-rod Dystrophy v0.4 PITPNM3 Bryony Thompson changed review comment from: Only a single missense (p.Gln626His) identified in 2 Swedish families. Macular atrophy is feature of the cone-rod dystrophy in these families. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. No functional assays have been conducted.; to: Single missense (p.Gln626His) identified in 2 Swedish families and two British macular dystrophy cases. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. Three other variants reported in isolated cases. No functional assays have been conducted.
Cone-rod Dystrophy v0.3 OPN1SW Bryony Thompson Classified gene: OPN1SW as Green List (high evidence)
Cone-rod Dystrophy v0.3 OPN1SW Bryony Thompson Gene: opn1sw has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.2 OPN1SW Bryony Thompson gene: OPN1SW was added
gene: OPN1SW was added to Cone-rod Dystrophy. Sources: Expert list
Mode of inheritance for gene: OPN1SW was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPN1SW were set to 22065927; 1531728
Phenotypes for gene: OPN1SW were set to Colorblindness, tritan MIM#190900
Review for gene: OPN1SW was set to GREEN
Added comment: Has been included on this panel, so that it is with the other cone-specific colour blindness genes. At least 6 missense variants associated with tritanopia.
Sources: Expert list
Cone-rod Dystrophy v0.1 UNC119 Bryony Thompson reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.1 Bryony Thompson Panel name changed from Cone-rod Dystrophies to Cone-rod Dystrophy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Cone-rod Dystrophy v0.0 UNC119 Bryony Thompson gene: UNC119 was added
gene: UNC119 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UNC119 were set to 30679166
Phenotypes for gene: UNC119 were set to ?Cone-rod dystrophy
Cone-rod Dystrophy v0.0 TTLL5 Bryony Thompson gene: TTLL5 was added
gene: TTLL5 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTLL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTLL5 were set to 30679166
Phenotypes for gene: TTLL5 were set to Cone-rod dystrophy 19,615860
Cone-rod Dystrophy v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEMA4A were set to 30679166
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283
Cone-rod Dystrophy v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1 were set to 30679166
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194
Cone-rod Dystrophy v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Cone-rod Dystrophies. 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)
Publications for gene: RPGR were set to 30679166
Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020
Cone-rod Dystrophy v0.0 RIMS1 Bryony Thompson gene: RIMS1 was added
gene: RIMS1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RIMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIMS1 were set to 30679166
Phenotypes for gene: RIMS1 were set to Cone-rod dystrophy 7, 603649
Cone-rod Dystrophy v0.0 RAX2 Bryony Thompson gene: RAX2 was added
gene: RAX2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAX2 were set to 30679166
Phenotypes for gene: RAX2 were set to Cone-rod dystrophy 11
Cone-rod Dystrophy v0.0 RAB28 Bryony Thompson gene: RAB28 was added
gene: RAB28 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAB28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB28 were set to 30679166
Phenotypes for gene: RAB28 were set to Cone-rod dystrophy 18, 615374
Cone-rod Dystrophy v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPH2 were set to 30679166
Phenotypes for gene: PRPH2 were set to Choroidal dystrophy, central areolar 2 MIM#613105
Cone-rod Dystrophy v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROM1 were set to 30679166
Phenotypes for gene: PROM1 were set to Cone-rod dystrophy 12, 612657
Cone-rod Dystrophy v0.0 POC1B Bryony Thompson gene: POC1B was added
gene: POC1B was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1B were set to 30679166
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20, 615973
Cone-rod Dystrophy v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 30679166; 17377520; 22405330
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Cone-rod Dystrophy v0.0 PDE6H Bryony Thompson gene: PDE6H was added
gene: PDE6H was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6H were set to 30679166
Phenotypes for gene: PDE6H were set to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024
Cone-rod Dystrophy v0.0 PDE6C Bryony Thompson gene: PDE6C was added
gene: PDE6C was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6C were set to 30679166
Phenotypes for gene: PDE6C were set to Cone dystrophy 4 MIM#613093
Cone-rod Dystrophy v0.0 OPN1MW Bryony Thompson gene: OPN1MW was added
gene: OPN1MW was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPN1MW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OPN1MW were set to 30679166
Phenotypes for gene: OPN1MW were set to Blue cone monochromacy MIM#303700; Colorblindness, deutan MIM#303800
Cone-rod Dystrophy v0.0 OPN1LW Bryony Thompson gene: OPN1LW was added
gene: OPN1LW was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OPN1LW were set to 30679166
Phenotypes for gene: OPN1LW were set to Blue cone monochromacy MIM#303700; Colorblindness, protan MIM#303900
Cone-rod Dystrophy v0.0 KCNV2 Bryony Thompson gene: KCNV2 was added
gene: KCNV2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNV2 were set to 30679166
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B MIM#610356
Cone-rod Dystrophy v0.0 GUCY2D Bryony Thompson gene: GUCY2D was added
gene: GUCY2D was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GUCY2D were set to 30679166
Phenotypes for gene: GUCY2D were set to Cone-rod dystrophy 6 MIM#601777
Cone-rod Dystrophy v0.0 GUCA1A Bryony Thompson gene: GUCA1A was added
gene: GUCA1A was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GUCA1A were set to 30679166
Phenotypes for gene: GUCA1A were set to Cone dystrophy-3, 602093
Cone-rod Dystrophy v0.0 CRX Bryony Thompson gene: CRX was added
gene: CRX was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRX were set to 30679166
Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970
Cone-rod Dystrophy v0.0 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGB3 were set to 30679166
Phenotypes for gene: CNGB3 were set to Achromatopsia-3, 262300
Cone-rod Dystrophy v0.0 CNGA3 Bryony Thompson gene: CNGA3 was added
gene: CNGA3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGA3 were set to 30679166
Phenotypes for gene: CNGA3 were set to Achromatopsia 2MIM#216900
Cone-rod Dystrophy v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERKL were set to 30679166
Phenotypes for gene: CERKL were set to Cone-rod dystrophy
Cone-rod Dystrophy v0.0 CEP78 Bryony Thompson gene: CEP78 was added
gene: CEP78 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP78 were set to 30679166
Phenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM: 617236
Cone-rod Dystrophy v0.0 CDHR1 Bryony Thompson gene: CDHR1 was added
gene: CDHR1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDHR1 were set to 30679166
Phenotypes for gene: CDHR1 were set to Cone-rod dystrophy 15, 613660
Cone-rod Dystrophy v0.0 CACNA2D4 Bryony Thompson gene: CACNA2D4 was added
gene: CACNA2D4 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D4 were set to 30679166
Phenotypes for gene: CACNA2D4 were set to Retinal cone dystrophy 4, 610478
Cone-rod Dystrophy v0.0 CACNA1F Bryony Thompson gene: CACNA1F was added
gene: CACNA1F was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CACNA1F were set to 30679166
Phenotypes for gene: CACNA1F were set to Cone-rod dystropy, X-linked, 3, 300476
Cone-rod Dystrophy v0.0 C8orf37 Bryony Thompson gene: C8orf37 was added
gene: C8orf37 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 30679166
Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500; Retinitis pigmentosa 64, 614500
Cone-rod Dystrophy v0.0 C21orf2 Bryony Thompson gene: C21orf2 was added
gene: C21orf2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 30679166
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547
Cone-rod Dystrophy v0.0 AIPL1 Bryony Thompson gene: AIPL1 was added
gene: AIPL1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AIPL1 were set to 30679166
Phenotypes for gene: AIPL1 were set to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Cone-rod Dystrophy v0.0 ADAM9 Bryony Thompson gene: ADAM9 was added
gene: ADAM9 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADAM9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM9 were set to 30679166
Phenotypes for gene: ADAM9 were set to Cone-rod dystrophy 9, 612775
Cone-rod Dystrophy v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA4 were set to 30679166
Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116
Cone-rod Dystrophy v0.0 Bryony Thompson Added panel Cone-rod Dystrophies