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Retinal disorders v4.90 RNU4ATAC Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651 to Lowry-Wood syndrome, OMIM:226960; Roifman syndrome, OMIM:616651
Retinal disorders v4.89 MT-ATP6 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: MT-ATP6.
Retinal disorders v4.89 SLC37A3 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: SLC37A3.
Retinal disorders v4.89 SLC37A3 Achchuthan Shanmugasundram Classified gene: SLC37A3 as Amber List (moderate evidence)
Retinal disorders v4.89 SLC37A3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Retinal disorders v4.89 SLC37A3 Achchuthan Shanmugasundram Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.88 SLC37A3 Achchuthan Shanmugasundram Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa; No OMIM entry to retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.87 SLC37A3 Achchuthan Shanmugasundram Publications for gene: SLC37A3 were set to 28041643
Retinal disorders v4.86 SLC37A3 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SLC37A3.
Retinal disorders v4.86 SLC37A3 Achchuthan Shanmugasundram reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MT-ATP6.
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Classified gene: MT-ATP6 as Amber List (moderate evidence)
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is ample evidence available for the association of MT-ATP6 gene with retinitis pigmentosa. Hence, this gene can be promoted to green rating in the next GMS review.
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Gene: mt-atp6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.85 MT-ATP6 Achchuthan Shanmugasundram Phenotypes for gene: MT-ATP6 were changed from Retinitis pigmentosa to NARP syndrome, MONDO:0010794
Retinal disorders v4.84 MT-ATP6 Achchuthan Shanmugasundram Publications for gene: MT-ATP6 were set to
Retinal disorders v4.83 MT-ATP6 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-ATP6.
Retinal disorders v4.83 MT-ATP6 Achchuthan Shanmugasundram reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11843698, 17568559, 19124644, 22819295, 23266623, 24118886, 27015314, 29054413, 29224958, 36809201; Phenotypes: NARP syndrome, MONDO:0010794; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v4.83 RP1L1 Arina Puzriakova Added comment: Comment on mode of inheritance: This gene is associated with occult macular dystrophy (monoallelic variants) and retinitis pigmentosa (biallelic variants) (https://omim.org/entry/608581) with sufficient cases reported for each phenotype. Currently the monoallelic phenotype is not represented on any GMS panels.

Following curation and consultation with the Genomics England clinical team, there was agreement that macular dystrophy is part of the phenotypic target for this panel. Based on previous reviews, it is not clear why the monoallelic MOI was overwritten and therefore this gene will be flagged for specialist review to determine whether the MOI should stay as 'biallelic' or be updated to 'both mono- and biallelic'.
Retinal disorders v4.83 RP1L1 Arina Puzriakova Mode of inheritance for gene: RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.82 RP1L1 Arina Puzriakova Tag Q2_24_MOI tag was added to gene: RP1L1.
Tag Q2_24_expert_review tag was added to gene: RP1L1.
Retinal disorders v4.82 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Retinal disorders v4.81 SAMD7 Arina Puzriakova commented on gene: SAMD7
Retinal disorders v4.81 SLC37A3 Siying Lin reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35486108; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.81 MT-TL1 Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence)
Retinal disorders v4.81 MT-TL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Retinal disorders v4.81 MT-TL1 Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.80 MT-TL1 Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from Retinitis pigmentosa to Retinal dystrophy, HP:0000556; Macular dystrophy, HP:0007754
Retinal disorders v4.79 MT-TL1 Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to
Retinal disorders v4.78 MT-TL1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: MT-TL1.
Tag Q1_24_NHS_review tag was added to gene: MT-TL1.
Retinal disorders v4.78 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18332310, 23806424; Phenotypes: Retinal dystrophy, HP:0000556, Macular dystrophy, HP:0007754; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v4.78 TTC21B Achchuthan Shanmugasundram Classified gene: TTC21B as Amber List (moderate evidence)
Retinal disorders v4.78 TTC21B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, an additional case has been seen with the inherited retinal disease service at Moorfields Eye Hospital and was reported with a homozygous variant in 100k genome project.

As there are three cases reported with retinal dystrophy, this gene can be promoted to green rating in the next GMS review.
Retinal disorders v4.78 TTC21B Achchuthan Shanmugasundram Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.77 TTC21B Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: TTC21B.
Tag Q1_24_NHS_review tag was added to gene: TTC21B.
Retinal disorders v4.77 TTC21B Achchuthan Shanmugasundram edited their review of gene: TTC21B: Changed rating: GREEN
Retinal disorders v4.77 JAG1 Achchuthan Shanmugasundram Classified gene: JAG1 as Amber List (moderate evidence)
Retinal disorders v4.77 JAG1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Retinal disorders v4.77 JAG1 Achchuthan Shanmugasundram Gene: jag1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.76 JAG1 Achchuthan Shanmugasundram Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, OMIM:118450 to Alagille syndrome 1, OMIM:118450; exudative vitreoretinopathy, MONDO:0019516
Retinal disorders v4.75 JAG1 Achchuthan Shanmugasundram Publications for gene: JAG1 were set to
Retinal disorders v4.74 JAG1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: JAG1.
Tag Q1_24_NHS_review tag was added to gene: JAG1.
Retinal disorders v4.74 JAG1 Achchuthan Shanmugasundram reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273345, 34185059; Phenotypes: Alagille syndrome 1, OMIM:118450, exudative vitreoretinopathy, MONDO:0019516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: SAMD7.
Tag Q1_24_NHS_review tag was added to gene: SAMD7.
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.; to: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SAMD7 have not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SAMD7 variants. Of these, patients from four families had macular dystrophy with cone dysfunction, while patients from two other families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram Classified gene: SAMD7 as Amber List (moderate evidence)
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.
Retinal disorders v4.74 SAMD7 Achchuthan Shanmugasundram Gene: samd7 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.73 SAMD7 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.
Retinal disorders v4.73 SAMD7 Achchuthan Shanmugasundram Phenotypes for gene: SAMD7 were changed from Macular dystrophy; cone dystrophy to macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637
Retinal disorders v4.72 SAMD7 Achchuthan Shanmugasundram Publications for gene: SAMD7 were set to PMID: 38272031
Retinal disorders v4.71 SAMD7 Achchuthan Shanmugasundram reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38272031; Phenotypes: macular dystrophy, retinal, MONDO:0031166, Congenital stationary cone dysfunction, HP:0030637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.71 JAG1 Siying Lin changed review comment from: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and have also been seen in within our inherited retinal dystrophy clinical cohort.; to: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and these retinal findings have also been seen in at least 2 unrelated patients with Alagille syndrome within our inherited retinal dystrophy clinical cohort
Retinal disorders v4.71 JAG1 Siying Lin reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34185059; Phenotypes: Retinal dystrophy, peripheral chorioretial atrophy, Alagille syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v4.71 TTC21B Siying Lin reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Retinal dystrophy, renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.71 MT-TL1 Siying Lin reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18332310, 23806424; Phenotypes: retinal dystrophy, macular dystrophy, chorioretinal atrophy, MELAS; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v4.71 ATXN7_CAG Siying Lin STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Retinal disorders. Sources: Literature
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN7_CAG were set to PMID: 27632585,
Phenotypes for STR: ATXN7_CAG were set to Maculopaty; Cone-Rod Dystrophy
Review for STR: ATXN7_CAG was set to GREEN
Added comment: PMID: 27632585 (father of proband), this ARVO abstract ( https://iovs.arvojournals.org/article.aspx?articleid=2768575) and cases from our clinical cohort, demonstrate that affected individuals can present with a seemingly isolated maculopathy or cone-rod dystrophy that precedes the onset of neurological symptoms
Sources: Literature
Retinal disorders v4.71 SAMD7 Siying Lin gene: SAMD7 was added
gene: SAMD7 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SAMD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD7 were set to PMID: 38272031
Phenotypes for gene: SAMD7 were set to Macular dystrophy; cone dystrophy
Penetrance for gene: SAMD7 were set to unknown
Mode of pathogenicity for gene: SAMD7 was set to Other
Review for gene: SAMD7 was set to GREEN
Added comment: 5 different variants identified in homozygosity in 6 families from varying ethnicities (Pakistani, African, Yemenite Jewish, Berber/Morocccan) segregating with disease. All affected individuals presented with macular dystrophy, a few had additional cone system involvement. Immunofluorescence studies show SAMD7 localisation to inner and outer nuclear layers of the human retina.
Sources: Literature
Retinal disorders v4.71 CNGA1 Arina Puzriakova Publications for gene: CNGA1 were set to
Retinal disorders v4.70 CNGA1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update - could not find any evidence to suggest that heterozygous variants can lead to disease. Family members of patients that are heterozygous carriers are unaffected.
Retinal disorders v4.70 CNGA1 Arina Puzriakova Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v4.69 CNGA1 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: CNGA1.
Retinal disorders v4.69 CNGA1 Arina Puzriakova Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, RP49 (AR); Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 49, 613756 to Retinitis pigmentosa 49, OMIM:613756
Retinal disorders v4.68 LRRC32 Achchuthan Shanmugasundram Classified gene: LRRC32 as Amber List (moderate evidence)
Retinal disorders v4.68 LRRC32 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two different homozygous LRRC32 variants reported (c.1630C>T/ p.Arg544Ter & c.1354 G>A/ p.Glu452Lys) in three unrelated families, of which p.Arg544Ter variant reported in two families was suggested to be a founder variant as indicated by haplotype analysis. Hence, this gene should be rated amber with current evidence.
Retinal disorders v4.68 LRRC32 Achchuthan Shanmugasundram Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.67 LRRC32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype.
Retinal disorders v4.67 LRRC32 Achchuthan Shanmugasundram Phenotypes for gene: LRRC32 were changed from Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
Retinal disorders v4.66 LRRC32 Achchuthan Shanmugasundram Phenotypes for gene: LRRC32 were changed from Cleft palate, proliferative retinopathy, and developmental delay to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
Retinal disorders v4.65 LRRC32 Achchuthan Shanmugasundram Publications for gene: LRRC32 were set to PMID: 30976112; PMID: 35656379
Retinal disorders v4.64 LRRC32 Achchuthan Shanmugasundram reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.64 LRRC32 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: LRRC32.
Retinal disorders v4.64 MT-ATP6 Andrew Webster reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: Other; Publications: PubMed: 8095070, 33600551, 8476414; Phenotypes: retinal dystrophy, macular dystrophy, retinitis pigmentosa, neuropathy, ataxia.; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v4.64 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Retinal disorders v4.63 MSTO1 Sarah Leigh changed review comment from: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.; to: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.
There are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).
Retinal disorders v4.63 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: 28554942, 37431817; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.63 UBAP1L Achchuthan Shanmugasundram Classified gene: UBAP1L as Amber List (moderate evidence)
Retinal disorders v4.63 UBAP1L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with four different UBAP1L variants reported with either Rod-cone dystrophy, cone-rod dystrophy or retinitis pigmentosa. Hence, this gene should be promoted to green rating in the next GMS review.
Retinal disorders v4.63 UBAP1L Achchuthan Shanmugasundram Gene: ubap1l has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.62 UBAP1L Achchuthan Shanmugasundram Phenotypes for gene: UBAP1L were changed from Retinitis pigmentosa to Rod-cone dystrophy, HP:0000510; cone-rod dystrophy, MONDO:0015993; retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.61 UBAP1L Achchuthan Shanmugasundram Publications for gene: UBAP1L were set to 28041643
Retinal disorders v4.60 UBAP1L Achchuthan Shanmugasundram Mode of inheritance for gene: UBAP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.59 UBAP1L Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: UBAP1L.
Tag Q1_24_NHS_review tag was added to gene: UBAP1L.
Retinal disorders v4.59 UBAP1L Achchuthan Shanmugasundram edited their review of gene: UBAP1L: Changed phenotypes to: Rod-cone dystrophy, HP:0000510, cone-rod dystrophy, MONDO:0015993, retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.59 UBAP1L Achchuthan Shanmugasundram reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rod-cone dystrophy, HP:0000510, cone-rod dystrophy, MONDO:0015993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.59 RAX2 Achchuthan Shanmugasundram Publications for gene: RAX2 were set to
Retinal disorders v4.58 RAX2 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.; to: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
Retinal disorders v4.58 RAX2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
Retinal disorders v4.58 RAX2 Achchuthan Shanmugasundram Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v4.57 RAX2 Achchuthan Shanmugasundram Phenotypes for gene: RAX2 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Macular Degeneration; Eye Disorders; Cone-Rod Dystrophy, Dominant; Cone-rod dystrophy 11 to Cone-rod dystrophy 11, OMIM:610381; Retinitis pigmentosa 95, OMIM:620102; ?Macular degeneration, age-related, 6, OMIM:613757
Retinal disorders v4.56 RAX2 Achchuthan Shanmugasundram Tag Q1_24_MOI tag was added to gene: RAX2.
Retinal disorders v4.56 RAX2 Achchuthan Shanmugasundram reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30377383, 30607024; Phenotypes: Cone-rod dystrophy 11, OMIM:610381, Retinitis pigmentosa 95, OMIM:620102, ?Macular degeneration, age-related, 6, OMIM:613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v4.56 UBAP1L Hannah Knight reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38293907, PMID: 28041643; Phenotypes: Rod-cone dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.56 LRRC32 Hannah Knight gene: LRRC32 was added
gene: LRRC32 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to PMID: 30976112; PMID: 35656379
Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay
Review for gene: LRRC32 was set to AMBER
Added comment: PMID: 30976112 - homozygous founder variant (p.R544X) identified in two consanguineous families of Palestinian descent - sister and brother, and an unrelated boy. All with cleft palate, proliferative retinopathy, and developmental delay. Segregated with disease in both families.
PMID: 35656379 - rare homozygous missense in a patient who presented with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy
Sources: Literature
Retinal disorders v4.56 MIR204 Achchuthan Shanmugasundram Mode of inheritance for gene: MIR204 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v4.55 TTC21B Achchuthan Shanmugasundram Classified gene: TTC21B as Amber List (moderate evidence)
Retinal disorders v4.55 TTC21B Achchuthan Shanmugasundram Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.54 TTC21B Achchuthan Shanmugasundram Phenotypes for gene: TTC21B were changed from Eye Disorders to Retinal dystrophy, HP:0000556
Retinal disorders v4.53 TTC21B Achchuthan Shanmugasundram Publications for gene: TTC21B were set to 21068128; 33599192
Retinal disorders v4.52 TTC21B Achchuthan Shanmugasundram Publications for gene: TTC21B were set to
Retinal disorders v4.51 TTC21B Achchuthan Shanmugasundram Mode of inheritance for gene: TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.50 TTC21B Achchuthan Shanmugasundram reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy, HP:0000556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.50 VWA8 Arina Puzriakova Tag watchlist tag was added to gene: VWA8.
Retinal disorders v4.50 VWA8 Arina Puzriakova Classified gene: VWA8 as Amber List (moderate evidence)
Retinal disorders v4.50 VWA8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. A single family (PMID: 37012052) with 11 individuals all presenting initial symptoms of visual defects which later progressed to macular changes, including macular degeneration and dystrophy. Two variants (c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter)) on the same allele of the VWA8 gene were found to segregate with disease. Expression studies showed reduced protein expression. Zebrafish knockdown model displayed a similar phenotype to that of humans.

Although there is only one family reported to date, multi-generational segregation with disease and concordant phenotype in a knockdown zebrafish model supports pathogenicity and therefore rating Amber with a 'watchlist' tag.
Retinal disorders v4.50 VWA8 Arina Puzriakova Gene: vwa8 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.49 VWA8 Arina Puzriakova Phenotypes for gene: VWA8 were changed from ?Retinitis pigmentosa 97 to ?Retinitis pigmentosa 97, OMIM:620422
Retinal disorders v4.48 TTC21B Nour Elkhateeb reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21068128, 33599192; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.48 MVK Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MVK.
Tag Q4_23_NHS_review tag was added to gene: MVK.
Retinal disorders v4.48 MVK Achchuthan Shanmugasundram Classified gene: MVK as Amber List (moderate evidence)
Retinal disorders v4.48 MVK Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Retinal disorders v4.48 MVK Achchuthan Shanmugasundram Gene: mvk has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.47 MVK Achchuthan Shanmugasundram Phenotypes for gene: MVK were changed from Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.46 MVK Achchuthan Shanmugasundram edited their review of gene: MVK: Changed phenotypes to: retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.46 MVK Achchuthan Shanmugasundram Publications for gene: MVK were set to 24084495
Retinal disorders v4.45 MVK Achchuthan Shanmugasundram reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.45 MVK Siying Lin reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35916082; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.45 RPE65 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: RPE65.
Tag Q4_23_MOI tag was added to gene: RPE65.
Retinal disorders v4.45 RPE65 Arina Puzriakova Tag Q3_23_MOI was removed from gene: RPE65.
Tag Q4_23_promote_green tag was added to gene: RPE65.
Retinal disorders v4.45 RPE65 Arina Puzriakova Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Leber congenital amaurosis 2, OMIM:204100 (AR); Retinitis pigmentosa 20, OMIM:613794 (AR); Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)
Retinal disorders v4.44 RPE65 Arina Puzriakova Publications for gene: RPE65 were set to
Retinal disorders v4.43 RPE65 Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPE65.
Retinal disorders v4.43 RPE65 Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants cause retinitis pigmentosa and leber congenital amaurosis. Heterozygous variants have also been found in at least 4 unrelated families with choroid/retinal atrophy that mimics certain aspects of choroideremia (PMIDs: 21654732; 27307694; 29947567).

This supports a change in MOI from biallelic to both mono- and biallelic at the next GMS panel update.
Retinal disorders v4.43 RPE65 Arina Puzriakova Mode of inheritance for gene: RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.42 NRL Arina Puzriakova Phenotypes for gene: NRL were changed from Retinal degeneration, autosomal recessive, clumped pigment type (AR); Retinitis pigmentosa 27 (AD); Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 27, 613750 to Retinal degeneration, autosomal recessive, clumped pigment type (AR); Retinitis pigmentosa 27, OMIM:613750
Retinal disorders v4.41 VWA8 Hannah Knight gene: VWA8 was added
gene: VWA8 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VWA8 were set to 37012052
Phenotypes for gene: VWA8 were set to ?Retinitis pigmentosa 97
Review for gene: VWA8 was set to AMBER
Added comment: PMID: 37012052 (2023) identified VWA8 as a novel cause of adRP in a four generation family with 11 affected family members.
6 of the affected members appear to have been tested and confirmed to carry the variant, while 5 unaffected members appear to have been confirmed NOT to
Sources: Literature
Retinal disorders v4.41 CFAP20 Ivone Leong Tag Q4_23_promote_green tag was added to gene: CFAP20.
Retinal disorders v4.41 CFAP20 Ivone Leong Classified gene: CFAP20 as Amber List (moderate evidence)
Retinal disorders v4.41 CFAP20 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene has been given an Amber rating; however, this gene should be promoted to Green at the next GMS review.
Retinal disorders v4.41 CFAP20 Ivone Leong Gene: cfap20 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.40 RCBTB1 Arina Puzriakova Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175 to Familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, OMIM:617175
Retinal disorders v4.39 RP1L1 Arina Puzriakova Phenotypes for gene: RP1L1 were changed from Occult Macular Dystrophy; Occult macular dystrophy, 613587 to Occult macular dystrophy, OMIM:613587 (AD); Retinitis pigmentosa 88, OMIM:618826 (AR)
Retinal disorders v4.36 CFAP20 Zornitza Stark gene: CFAP20 was added
gene: CFAP20 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP20 were set to 36329026
Phenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)
Review for gene: CFAP20 was set to GREEN
Added comment: Describe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin.

Family 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.
Family 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)
Family 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).
Family 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)

For all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old).

Used HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues.

CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development.
Sources: Literature
Retinal disorders v4.36 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Retinal disorders v4.36 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Retinal disorders v4.36 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Retinal disorders v4.36 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Classified gene: CTNND1 as Amber List (moderate evidence)
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene to familial exudative vitreoretinopathy. Hence, this gene can be promoted to green rating in the next GMS update.
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.35 CTNND1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CTNND1.
Retinal disorders v4.35 CTNND1 Achchuthan Shanmugasundram gene: CTNND1 was added
gene: CTNND1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNND1 were set to 35700046
Phenotypes for gene: CTNND1 were set to exudative vitreoretinopathy, MONDO:0019516
Review for gene: CTNND1 was set to GREEN
Added comment: Of 140 probands of familial exudative vitreoretinopathy (FEVR) families that had whole exome sequencing, three patients were reported with three different heterozygous variants in CTNND1 gene. In addition, inducible deletion of Ctnnd1 in the postnatal mouse endothelial cells (ECs) exhibited typical phenotypes of FEVR with reactive gliosis.

This gene has not yet been associated with this FEVR phenotype either in OMIM or in Gene2Phenotype.
Sources: Literature
Retinal disorders v4.34 SGSH Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SGSH.
Tag Q2_23_NHS_review was removed from gene: SGSH.
Retinal disorders v4.34 PDSS1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: PDSS1.
Tag Q4_22_promote_green was removed from gene: PDSS1.
Retinal disorders v4.34 LAMP2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: LAMP2.
Tag Q2_23_NHS_review was removed from gene: LAMP2.
Retinal disorders v4.34 COQ2 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: COQ2.
Tag Q4_22_promote_green was removed from gene: COQ2.
Retinal disorders v4.34 AIPL1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: AIPL1.
Retinal disorders v4.34 SGSH Achchuthan Shanmugasundram commented on gene: SGSH: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Retinal disorders v4.34 PDSS1 Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.34 LAMP2 Achchuthan Shanmugasundram commented on gene: LAMP2: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Retinal disorders v4.34 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.34 AIPL1 Achchuthan Shanmugasundram reviewed gene: AIPL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v4.33 SGSH Achchuthan Shanmugasundram Source Expert Review Green was added to SGSH.
Source NHS GMS was added to SGSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 PDSS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1.
Source NHS GMS was added to PDSS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 LAMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMP2.
Source NHS GMS was added to LAMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 COQ2 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ2.
Source NHS GMS was added to COQ2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 AIPL1 Achchuthan Shanmugasundram Mode of inheritance for gene AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v4.32 MIR204 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204.
Tag Q3_23_NHS_review tag was added to gene: MIR204.
Retinal disorders v4.32 NBAS Sarah Leigh edited their review of gene: NBAS: Added comment: Based on the evidence cited by Siying Lin (Moorfields Eye Hospital)(PMIDs: 20577004, 28115293, 36479642, 34110364) and the case found in their clinical practice; cone dysfunction is a feature of the ocular phenotype associated with biallelic NBAS variants.; Changed rating: GREEN
Retinal disorders v4.32 NBAS Sarah Leigh Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.31 NBAS Sarah Leigh Classified gene: NBAS as Amber List (moderate evidence)
Retinal disorders v4.31 NBAS Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v4.31 NBAS Sarah Leigh Gene: nbas has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.30 NBAS Sarah Leigh Tag Q3_23_promote_green tag was added to gene: NBAS.
Tag Q3_23_NHS_review tag was added to gene: NBAS.
Retinal disorders v4.30 NBAS Sarah Leigh Phenotypes for gene: NBAS were changed from to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800; short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Retinal disorders v4.29 NBAS Sarah Leigh Publications for gene: NBAS were set to
Retinal disorders v4.28 MIR204 Sarah Leigh Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.
Retinal disorders v4.28 MIR204 Sarah Leigh Mode of pathogenicity for gene: MIR204 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
Retinal disorders v4.27 MIR204 Sarah Leigh Classified gene: MIR204 as Amber List (moderate evidence)
Retinal disorders v4.27 MIR204 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v4.27 MIR204 Sarah Leigh Gene: mir204 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.26 MIR204 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: MIR204.
Retinal disorders v4.26 MIR204 Sarah Leigh reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v4.26 MIR204 Sarah Leigh Phenotypes for gene: MIR204 were changed from to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Retinal disorders v4.25 MIR204 Sarah Leigh Publications for gene: MIR204 were set to
Retinal disorders v4.24 NBAS Siying Lin reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 20577004, 28115293, 36479642, 34110364; Phenotypes: Optic atrophy, Cone dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.24 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 26056285, 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v4.24 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Retinal disorders v4.24 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Retinal disorders v4.24 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Retinal disorders v4.24 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Retinal disorders v4.24 ALPK1 Sarah Leigh reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v4.24 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31939038; 31053777; 34159509
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MPDZ.
Tag Q3_23_NHS_review tag was added to gene: MPDZ.
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Classified gene: MPDZ as Amber List (moderate evidence)
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases and supporting functional evidence available for the association of this gene with this panel and hence this gene can be promoted to green rating at the next GMS review.
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Gene: mpdz has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.22 MPDZ Achchuthan Shanmugasundram Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Retinal disorders v4.21 MPDZ Achchuthan Shanmugasundram Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029
Retinal disorders v4.20 MPDZ Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 36429029, 36594712; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.20 MPDZ Siying Lin changed review comment from: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia
PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas
PMID 36429029: proband with biallelic MPDZ variants and macular coloboma
Sources: Literature; to: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia
PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas
PMID 36429029: proband with biallelic MPDZ variants and macular coloboma
Sources: Literature
Retinal disorders v4.20 MPDZ Siying Lin gene: MPDZ was added
gene: MPDZ was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029
Mode of pathogenicity for gene: MPDZ was set to Other
Added comment: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia
PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas
PMID 36429029: proband with biallelic MPDZ variants and macular coloboma
Sources: Literature
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DYNC2H1.
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Classified gene: DYNC2H1 as Amber List (moderate evidence)
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated cases) in support of the association of this gene with inherited retinal disease. Hence, this gene can be promoted to green rating in the next GMS review.
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.19 DYNC2H1 Achchuthan Shanmugasundram Phenotypes for gene: DYNC2H1 were changed from to retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.18 DYNC2H1 Achchuthan Shanmugasundram Publications for gene: DYNC2H1 were set to
Retinal disorders v4.17 DYNC2H1 Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32753734; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.17 MCOLN1 Achchuthan Shanmugasundram changed review comment from: Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest tetinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).

The following are some of the reported cases:
PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.
PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.
PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.

This gene has also been associated with relevant phenotypes both in OMIM (MIM #252650) and DD and eye panels of Gene2Phenotype (with 'definitive' rating). The ophthalmological manifestations including corneal clouding, progressive retinal degeneration and optic atrophy has been reported as part of the OMIM phenotype.; to: Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).

The following are some of the reported cases:
PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.
PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.
PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.

This gene has also been associated with relevant phenotypes both in OMIM (MIM #252650) and DD and eye panels of Gene2Phenotype (with 'definitive' rating). The ophthalmological manifestations including corneal clouding, progressive retinal degeneration and optic atrophy has been reported as part of the OMIM phenotype.
Retinal disorders v4.17 MCOLN1 Achchuthan Shanmugasundram Classified gene: MCOLN1 as Amber List (moderate evidence)
Retinal disorders v4.17 MCOLN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence for this gene to be added with a green rating in this panel as patients with MCOLN1-associated mucolipidosis IV present with a limited ocular phenotype including retinal dystrophy.
Retinal disorders v4.17 MCOLN1 Achchuthan Shanmugasundram Gene: mcoln1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.16 MCOLN1 Achchuthan Shanmugasundram Publications for gene: MCOLN1 were set to 17239335; 1488220; 18326692
Retinal disorders v4.15 MCOLN1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MCOLN1.
Retinal disorders v4.15 MCOLN1 Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17239335, 25156245, 33965501, 35205297; Phenotypes: Mucolipidosis IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.15 PYGM Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.; to: Comment on list classification: As reviewed by Siying Lin, there are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.
Retinal disorders v4.15 PYGM Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PYGM.
Tag Q3_23_NHS_review tag was added to gene: PYGM.
Retinal disorders v4.15 PYGM Achchuthan Shanmugasundram Classified gene: PYGM as Amber List (moderate evidence)
Retinal disorders v4.15 PYGM Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.
Retinal disorders v4.15 PYGM Achchuthan Shanmugasundram Gene: pygm has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.14 PYGM Achchuthan Shanmugasundram Phenotypes for gene: PYGM were changed from Macular dystrophy, retinopathy to macular dystrophy, retinal, MONDO:0031166
Retinal disorders v4.13 PYGM Achchuthan Shanmugasundram Publications for gene: PYGM were set to PMID 30316539
Retinal disorders v4.12 PYGM Achchuthan Shanmugasundram reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30316539; Phenotypes: macular dystrophy, retinal, MONDO:0031166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.12 PYGM Siying Lin gene: PYGM was added
gene: PYGM was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to PMID 30316539
Phenotypes for gene: PYGM were set to Macular dystrophy, retinopathy
Mode of pathogenicity for gene: PYGM was set to Other
Review for gene: PYGM was set to GREEN
Added comment: Mahroo et al (PMID 30316539) report on 4 individuals with McArdle disease and biallelic variants in PYGM and similar retinopathy affecting the macula. Screening results for mutations in a number of macular dystrophy genes were negative, supporting the association of this retinopathy with McArdle disease
Sources: Literature
Retinal disorders v4.12 MCOLN1 Siying Lin gene: MCOLN1 was added
gene: MCOLN1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 17239335; 1488220; 18326692
Mode of pathogenicity for gene: MCOLN1 was set to Other
Review for gene: MCOLN1 was set to GREEN
Added comment: Retinal degeneration is a known feature of MCOLN1-associated mucolipidosis IV, and there are reports of patients presenting with a limited ocular phenotype including retinal dystrophy
Sources: Literature
Retinal disorders v4.12 IDH3A Sarah Leigh reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v4.12 IDH3A Sarah Leigh Publications for gene: IDH3A were set to 28412069; 30478029
Retinal disorders v4.11 IDH3A Sarah Leigh Phenotypes for gene: IDH3A were changed from Retinitis Pigmentosa; Pseudocoloboma to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563
Retinal disorders v4.10 LAMP2 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: LAMP2.
Retinal disorders v4.10 LAMP2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: LAMP2.
Retinal disorders v4.10 LAMP2 Achchuthan Shanmugasundram Phenotypes for gene: LAMP2 were changed from Pigmentary retinopathy to Pigmentary retinopathy; Danon disease, OMIM:300257
Retinal disorders v4.9 LAMP2 Achchuthan Shanmugasundram Publications for gene: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689)
Retinal disorders v4.8 LAMP2 Achchuthan Shanmugasundram Classified gene: LAMP2 as Amber List (moderate evidence)
Retinal disorders v4.8 LAMP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin (Moorfields Eye Hospital), there is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
Retinal disorders v4.8 LAMP2 Achchuthan Shanmugasundram Gene: lamp2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.7 LAMP2 Achchuthan Shanmugasundram reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16751040, 22290069, 26398689, 32533651, 32890081, 36288619; Phenotypes: Danon disease, OMIM:300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v4.7 LAMP2 Siying Lin gene: LAMP2 was added
gene: LAMP2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: LAMP2 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: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689)
Phenotypes for gene: LAMP2 were set to Pigmentary retinopathy
Mode of pathogenicity for gene: LAMP2 was set to Other
Review for gene: LAMP2 was set to GREEN
Added comment: Several reports in literature identifying pigmentary retinopathy as part of the phenotypic spectrum in patients with Danon disease (female carriers less severely affected)
Sources: Literature
Retinal disorders v4.7 SPG7 Sarah Leigh Classified gene: SPG7 as Amber List (moderate evidence)
Retinal disorders v4.7 SPG7 Sarah Leigh Gene: spg7 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.6 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v4.6 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v4.5 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Retinal disorders v4.4 SGSH Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).; to: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four unrelated cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).
Retinal disorders v4.4 SGSH Achchuthan Shanmugasundram Classified gene: SGSH as Amber List (moderate evidence)
Retinal disorders v4.4 SGSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).
Retinal disorders v4.4 SGSH Achchuthan Shanmugasundram Gene: sgsh has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.3 SGSH Achchuthan Shanmugasundram Phenotypes for gene: SGSH were changed from to Retinal dystrophy, HP:0000556; retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.2 SGSH Achchuthan Shanmugasundram Publications for gene: SGSH were set to PMID 31718697
Retinal disorders v4.1 SGSH Achchuthan Shanmugasundram edited their review of gene: SGSH: Changed publications to: 31718697, 32195255
Retinal disorders v4.1 SGSH Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SGSH.
Tag Q2_23_NHS_review tag was added to gene: SGSH.
Retinal disorders v4.1 SGSH Achchuthan Shanmugasundram changed review comment from: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene.

In addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255).

Although SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records.; to: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene.

Siying Lin (Moorfields Eye Hospital) also reviewed about two additional cases of retinal dystrophy identified with biallelic SGSH variants in their patient cohort.

In addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255).

Although SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records.
Retinal disorders v4.1 SGSH Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31718697; Phenotypes: Retinal dystrophy, HP:0000556, retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2023-03-22
Retinal disorders v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Retinal disorders v3.34 SGSH Siying Lin gene: SGSH was added
gene: SGSH was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to PMID 31718697
Mode of pathogenicity for gene: SGSH was set to Other
Review for gene: SGSH was set to GREEN
Added comment: Reports of late onset retinal dystrophy with mild systemic involvement (attenuated MPS phenotype) associated with biallelic genotypes which include likely hypomorphic alleles. Also two individuals identified in our clinical cohort with retinal dystrophy associated with biallelic SGSH variants.
Sources: Literature
Retinal disorders v3.34 EFEMP1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with phenotype in OMIM (MIM #126600) and in Gene2Phenotype.
Retinal disorders v3.34 EFEMP1 Achchuthan Shanmugasundram Phenotypes for gene: EFEMP1 were changed from Macular Dystrophy/Degeneration/Stargardt Disease; Inherited macular dystrophy (Doyne/dominant drusen) to Doyne honeycomb degeneration of retina, OMIM:126600
Retinal disorders v3.33 PDE6B Achchuthan Shanmugasundram Publications for gene: PDE6B were set to
Retinal disorders v3.32 CWC27 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:34726245 reports functional studies from mouse model in support of the association of this gene to retinal abnormalities.
Retinal disorders v3.32 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were set to 28285769
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram changed review comment from: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).; to: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).

In addition, a review of the database of patients with inherited retinal disease at Moorfields Eye Hospital London and The Hospital for Sick Children Toronto identified 17 patients with confirmed biallelic mutations in RDH5. Of these, seven patients (from six families) had macular atrophy evident on SD-OCT and/or fundus autofluorescence imaging.
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram Added comment: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram Publications for gene: RDH5 were set to 21529959
Retinal disorders v3.30 KCNV2 Achchuthan Shanmugasundram reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: Retinal cone dystrophy 3B, OMIM:610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.30 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Retinal disorders v3.30 COL9A3 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Classified gene: COL11A1 as Green List (high evidence)
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Gene: col11a1 has been classified as Green List (High Evidence).
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL11A1.
Tag Q1_23_promote_green was removed from gene: COL11A1.
Tag Q1_23_expert_review was removed from gene: COL11A1.
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram edited their review of gene: COL11A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A3.
Tag Q1_23_promote_green was removed from gene: COL9A3.
Tag Q1_23_expert_review was removed from gene: COL9A3.
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Classified gene: COL9A3 as Green List (high evidence)
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Gene: col9a3 has been classified as Green List (High Evidence).
Retinal disorders v3.28 COL9A3 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.28 COL9A3 Achchuthan Shanmugasundram edited their review of gene: COL9A3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A2.
Tag Q1_23_promote_green was removed from gene: COL9A2.
Tag Q1_23_expert_review was removed from gene: COL9A2.
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Classified gene: COL9A2 as Green List (high evidence)
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Gene: col9a2 has been classified as Green List (High Evidence).
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram edited their review of gene: COL9A2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A1.
Tag Q1_23_promote_green was removed from gene: COL9A1.
Tag Q1_23_expert_review was removed from gene: COL9A1.
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram edited their review of gene: COL9A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Classified gene: COL9A1 as Green List (high evidence)
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Gene: col9a1 has been classified as Green List (High Evidence).
Retinal disorders v3.26 COL9A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COL2A1.
Tag Q3_22_NHS_review was removed from gene: COL2A1.
Tag Q3_22_expert_review was removed from gene: COL2A1.
Retinal disorders v3.26 COL9A3 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A3.
Retinal disorders v3.26 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A2.
Retinal disorders v3.26 COL9A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A1.
Retinal disorders v3.26 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL11A1.
Retinal disorders v3.26 IRX6 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: IRX6.
Tag Q3_21_expert_review was removed from gene: IRX6.
Retinal disorders v3.26 IRX6 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: IRX5.
Tag Q3_21_expert_review was removed from gene: IRX5.
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.
Retinal disorders v3.26 PRPF6 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PRPF6.
Tag Q3_22_expert_review was removed from gene: PRPF6.
Retinal disorders v3.26 STN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: STN1.
Retinal disorders v3.26 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1.
Retinal disorders v3.26 RNU4ATAC Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RNU4ATAC.
Tag Q2_22_NHS_review was removed from gene: RNU4ATAC.
Retinal disorders v3.26 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Retinal disorders v3.26 ARSG Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: ARSG.
Tag Q2_22_NHS_review was removed from gene: ARSG.
Retinal disorders v3.26 AFG3L2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: AFG3L2.
Retinal disorders v3.26 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Retinal disorders v3.26 RGR Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RGR.
Tag Q3_22_NHS_review was removed from gene: RGR.
Retinal disorders v3.26 POMT1 Achchuthan Shanmugasundram Tag Q3_21_NHS_review was removed from gene: POMT1.
Tag Q3_22_rating was removed from gene: POMT1.
Retinal disorders v3.26 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the rating and mode of inheritance of this gene.
Retinal disorders v3.26 COL9A2 Achchuthan Shanmugasundram commented on gene: COL9A2: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.26 COL9A1 Achchuthan Shanmugasundram commented on gene: COL9A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram commented on gene: COL2A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.26 COL11A1 Achchuthan Shanmugasundram commented on gene: COL11A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.26 IRX6 Achchuthan Shanmugasundram reviewed gene: IRX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram reviewed gene: IRX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 PRPF6 Achchuthan Shanmugasundram reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 POMGNT2 Achchuthan Shanmugasundram commented on gene: POMGNT2: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Retinal disorders v3.26 STN1 Achchuthan Shanmugasundram commented on gene: STN1: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Retinal disorders v3.26 SSBP1 Achchuthan Shanmugasundram commented on gene: SSBP1
Retinal disorders v3.26 RNU4ATAC Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 PEX6 Achchuthan Shanmugasundram commented on gene: PEX6
Retinal disorders v3.26 ARSG Achchuthan Shanmugasundram reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 AFG3L2 Achchuthan Shanmugasundram commented on gene: AFG3L2
Retinal disorders v3.26 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Retinal disorders v3.26 RGR Achchuthan Shanmugasundram reviewed gene: RGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 POMT1 Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram edited their review of gene: COL2A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.25 STN1 Achchuthan Shanmugasundram Source NHS GMS was added to STN1.
Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.25 SSBP1 Achchuthan Shanmugasundram Source NHS GMS was added to SSBP1.
Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.25 RNU4ATAC Achchuthan Shanmugasundram Source NHS GMS was added to RNU4ATAC.
Source Expert Review Green was added to RNU4ATAC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.25 RGR Achchuthan Shanmugasundram Source Expert Review Green was added to RGR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.25 POMT1 Achchuthan Shanmugasundram Source NHS GMS was added to POMT1.
Source Expert Review Green was added to POMT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.25 POMGNT2 Achchuthan Shanmugasundram Source NHS GMS was added to POMGNT2.
Retinal disorders v3.25 PEX6 Achchuthan Shanmugasundram Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.25 COL2A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL2A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Retinal disorders v3.25 ARSG Achchuthan Shanmugasundram Source Expert Review Green was added to ARSG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.25 AFG3L2 Achchuthan Shanmugasundram Mode of inheritance for gene AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.25 ACO2 Achchuthan Shanmugasundram Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.24 POMGNT2 Achchuthan Shanmugasundram Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
Retinal disorders v3.23 POMGNT2 Achchuthan Shanmugasundram Publications for gene: POMGNT2 were set to
Retinal disorders v3.22 POMGNT2 Achchuthan Shanmugasundram Mode of inheritance for gene: POMGNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.21 POMGNT2 Achchuthan Shanmugasundram Classified gene: POMGNT2 as Amber List (moderate evidence)
Retinal disorders v3.21 POMGNT2 Achchuthan Shanmugasundram Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v3.20 POMGNT2 Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958903, 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.20 STN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: STN1.
Retinal disorders v3.20 STN1 Achchuthan Shanmugasundram Phenotypes for gene: STN1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Retinal disorders v3.19 STN1 Achchuthan Shanmugasundram Publications for gene: STN1 were set to
Retinal disorders v3.18 STN1 Achchuthan Shanmugasundram Mode of inheritance for gene: STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.17 STN1 Achchuthan Shanmugasundram Classified gene: STN1 as Amber List (moderate evidence)
Retinal disorders v3.17 STN1 Achchuthan Shanmugasundram Gene: stn1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v3.16 STN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: Four unrelated patients identified with biallelic variants (homozygous or compound heterozygous) have been reported with retinal telangiectasia/ retinal lesions (PMID:27432940, PMID:34110109). hence, this gene can be rated GREEN.; to: Comment on classification: Four unrelated patients identified with biallelic variants (homozygous or compound heterozygous) have been reported with retinal telangiectasia/ retinal lesions (PMID:27432940, PMID:34110109). I would therefore recommend this gene to be rated GREEN at the next GMS review.
Retinal disorders v3.16 STN1 Achchuthan Shanmugasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27432940, 34110109; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.16 COL11A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL11A1.
Tag Q1_23_expert_review tag was added to gene: COL11A1.
Retinal disorders v3.16 COL11A1 Achchuthan Shanmugasundram Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Retinal disorders v3.15 COL11A1 Achchuthan Shanmugasundram Publications for gene: COL11A1 were set to
Retinal disorders v3.14 COL11A1 Achchuthan Shanmugasundram Mode of inheritance for gene: COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.13 COL11A1 Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: None; Publications: 10486316, 17318849; Phenotypes: Marshall syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.13 COL9A3 Achchuthan Shanmugasundram Tag Q1_23_expert_review tag was added to gene: COL9A3.
Retinal disorders v3.13 COL9A3 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL9A3.
Retinal disorders v3.13 COL9A3 Achchuthan Shanmugasundram Phenotypes for gene: COL9A3 were changed from to Stickler syndrome, type VI, OMIM:620022
Retinal disorders v3.12 COL9A3 Achchuthan Shanmugasundram Publications for gene: COL9A3 were set to
Retinal disorders v3.11 COL9A3 Achchuthan Shanmugasundram Mode of inheritance for gene: COL9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.10 COL9A3 Achchuthan Shanmugasundram edited their review of gene: COL9A3: Changed publications to: 30450842, 33570243, 33633367
Retinal disorders v3.10 COL9A3 Achchuthan Shanmugasundram reviewed gene: COL9A3: Rating: ; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, type VI, OMIM:620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.10 COL9A2 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL9A2.
Tag Q1_23_expert_review tag was added to gene: COL9A2.
Retinal disorders v3.10 COL9A2 Achchuthan Shanmugasundram Publications for gene: COL9A2 were set to
Retinal disorders v3.9 COL9A2 Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, OMIM:614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.9 COL9A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL9A1.
Tag Q1_23_expert_review tag was added to gene: COL9A1.
Retinal disorders v3.9 COL9A1 Achchuthan Shanmugasundram Publications for gene: COL9A1 were set to
Retinal disorders v3.8 COL9A1 Achchuthan Shanmugasundram reviewed gene: COL9A1: Rating: ; Mode of pathogenicity: None; Publications: 16909383, 21421862; Phenotypes: Stickler syndrome, type IV, OMIM:614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.8 COL2A1 Achchuthan Shanmugasundram changed review comment from: There is sufficient evidence linking COL2A1 with retinal disorders (retinal thinning, lattice retinopathy, retinal detachment, vitreoretinal degeneration, blindness etc). However, these phenotypes overlap with that of Stickler syndrome and this gene is green on Stickler syndrome panel. It has previously been decided (2019) in consultation with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) that this gene can stay red in this panel. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.; to: There is sufficient evidence linking COL2A1 with retinal disorders (retinal thinning, lattice retinopathy, retinal detachment, vitreoretinal degeneration, blindness etc). However, these phenotypes overlap with that of Stickler syndrome and this gene is green on Stickler syndrome panel (https://panelapp.genomicsengland.co.uk/panels/3/gene/COL2A1/). It has previously been decided (2019) in consultation with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) that this gene can stay red in this panel. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.
Retinal disorders v3.8 COL2A1 Achchuthan Shanmugasundram Phenotypes for gene: COL2A1 were changed from Eye Disorders to Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450; Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248; Kniest dysplasia, OMIM:156550; SED congenita, OMIM:183900; Stickler syndrome, type I, OMIM:108300; Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508
Retinal disorders v3.7 COL2A1 Achchuthan Shanmugasundram Mode of inheritance for gene: COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v3.6 COL2A1 Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450, Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248, Kniest dysplasia, OMIM:156550, SED congenita, OMIM:183900, Stickler syndrome, type I, OMIM:108300, Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v3.6 POMGNT2 Eleanor Williams reviewed gene: POMGNT2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscle Eye Brain disease, Walker Warburg disease, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 POMGNT1 Eleanor Williams reviewed gene: POMGNT1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: non-syndromic Retinitis Pigmentosa, Walker Warburg syndrome, Muscle-eye-brain disease, dystroglycanopathy, retinal detachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 STN1 Eleanor Williams reviewed gene: STN1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, Marshall syndrome,, beaded vitreous, early onset hearing loss, retinal detachment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.6 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: stickler syndrome, retinal degeneration, retinal detachment; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.6 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler Syndrome, high myopia, retinal detachment,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler Syndrome, high myopia, retinal detachment, sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 COL2A1 Eleanor Williams reviewed gene: COL2A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: retinal detachment, Stickler syndrome, cleft palate, hearing impairment, cataract,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.5 POMGNT2 Eleanor Williams gene: POMGNT2 was added
gene: POMGNT2 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: POMGNT2 was set to
Retinal disorders v3.5 STN1 Eleanor Williams gene: STN1 was added
gene: STN1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: STN1 was set to
Retinal disorders v3.5 COL9A3 Eleanor Williams gene: COL9A3 was added
gene: COL9A3 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: COL9A3 was set to
Retinal disorders v3.4 EYS Arina Puzriakova Phenotypes for gene: EYS were changed from Retinitis pigmentosa 25; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 25, 602772 to Retinitis pigmentosa 25, OMIM:602772
Retinal disorders v3.3 EYS Arina Puzriakova Publications for gene: EYS were set to
Retinal disorders v3.2 NPHP1 Achchuthan Shanmugasundram Publications for gene: NPHP1 were set to
Retinal disorders v3.1 NPHP1 Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: ; Mode of pathogenicity: None; Publications: 34415307; Phenotypes: ; Mode of inheritance: None
Retinal disorders v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-11-30
Retinal disorders v3.0 Arina Puzriakova promoted panel to version 3.0
Retinal disorders v2.301 AIPL1 Arina Puzriakova Tag Q4_22_MOI tag was added to gene: AIPL1.
Retinal disorders v2.301 AIPL1 Arina Puzriakova edited their review of gene: AIPL1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v2.301 AIPL1 Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa
Retinal disorders v2.301 AIPL1 Arina Puzriakova Phenotypes for gene: AIPL1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Cone-rod dystrophy, OMIM:604393; Retinitis pigmentosa, juvenile, OMIM:604393; Leber congenital amaurosis 4, OMIM:604393
Retinal disorders v2.300 AIPL1 Arina Puzriakova Publications for gene: AIPL1 were set to
Retinal disorders v2.299 AIPL1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'biallelic' to 'both mono- and biallelic (but biallelic mutations cause a more SEVERE disease form) at the next GMS panel update.

This gene is typically associated with recessive inheritance of a Leber congenital amaurosis (LCA) phenotype. However, some patients with heterozygous variants have also been identified, usually presenting less severe phenotypes within the retinal dystrophy spectrum such as retinitis pigmentosa and rod-cone dystrophy/dysfunction - although heterozygous variants act with reduced penetrance (PMID: 10873396; 15249368; 21900377; 33067476)

Both MOIs are also listed in OMIM.
Retinal disorders v2.299 AIPL1 Arina Puzriakova Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.298 CNGB3 Arina Puzriakova Phenotypes for gene: CNGB3 were changed from Achromatopsia; Macular degeneration, juvenile; Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 -3; Stargardt Disease, Recessive; Macular Dystrophy/Degeneration/Stargardt Disease; Achromatopsia-3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia 3, OMIM:262300; Macular degeneration, juvenile
Retinal disorders v2.297 CTNNB1 Arina Puzriakova Phenotypes for gene: CTNNB1 were changed from Exudative vitreoretinopathy 7 617572 to Exudative vitreoretinopathy 7, OMIM:617572
Retinal disorders v2.296 HK1 Arina Puzriakova Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Retinal disorders v2.295 GRN Arina Puzriakova Added comment: Comment on mode of inheritance: Only found evidence of infraclinical lesions of retinal lipofuscinosis detected in heterozygous carriers (PMID: 28404863) and therefore the MOI of 'biallelic' on this panel is correct.
Retinal disorders v2.295 GRN Arina Puzriakova Mode of inheritance for gene: GRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.294 FBLN5 Arina Puzriakova Phenotypes for gene: FBLN5 were changed from Macular Degeneration to Macular degeneration, age-related, 3, OMIM:608895; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Retinal disorders v2.293 COQ5 Sarah Leigh Classified gene: COQ5 as Amber List (moderate evidence)
Retinal disorders v2.293 COQ5 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated amber.
Retinal disorders v2.293 COQ5 Sarah Leigh Gene: coq5 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.292 COQ5 Sarah Leigh gene: COQ5 was added
gene: COQ5 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 36266294
Phenotypes for gene: COQ5 were set to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; coenzyme q10 deficiency, primary, 9, MONDO:0033615
Review for gene: COQ5 was set to AMBER
Added comment: Associated with Coenzyme Q10 deficiency, primary, 9, OMIM:619028 and as limited Gen2Phen gene for this condition. PMID: 36266294 reports three variants in two unrelated cases with retinitis pigmentosa.
Sources: Literature
Retinal disorders v2.291 COQ4 Sarah Leigh gene: COQ4 was added
gene: COQ4 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 36266294
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562
Review for gene: COQ4 was set to RED
Added comment: Associated with Coenzyme Q10 deficiency, primary, 7, OMIM:616276 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports two variants in a case with retinitis pigmentosa.
Sources: Literature
Retinal disorders v2.290 COQ2 Sarah Leigh Classified gene: COQ2 as Amber List (moderate evidence)
Retinal disorders v2.290 COQ2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v2.290 COQ2 Sarah Leigh Gene: coq2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.289 COQ2 Sarah Leigh gene: COQ2 was added
gene: COQ2 was added to Retinal disorders. Sources: Literature
Q4_22_MOI, Q4_22_promote_green tags were added to gene: COQ2.
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 36266294
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; coenzyme Q10 deficiency, primary, 1, MONDO:0011829
Review for gene: COQ2 was set to GREEN
Added comment: Associated with Coenzyme Q10 deficiency, primary, 1, OMIM:607426 and as definitive Gen2Phen gene for this condition. PMID: 36266294 reports four variants in three unrelated cases with retinitis pigmentosa.
Sources: Literature
Retinal disorders v2.288 PDSS1 Sarah Leigh Classified gene: PDSS1 as Amber List (moderate evidence)
Retinal disorders v2.288 PDSS1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v2.288 PDSS1 Sarah Leigh Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.287 PDSS1 Sarah Leigh gene: PDSS1 was added
gene: PDSS1 was added to Retinal disorders. Sources: Literature
Q4_22_MOI, Q4_22_promote_green tags were added to gene: PDSS1.
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 36266294
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651; deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837
Review for gene: PDSS1 was set to GREEN
Added comment: Associated with Coenzyme Q10 deficiency, primary, 2, OMIM:614651 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports nine variants in six unrelated cases with retinitis pigmentosa.
Sources: Literature
Retinal disorders v2.286 PRPF6 Eleanor Williams commented on gene: PRPF6
Retinal disorders v2.286 PRPF6 Eleanor Williams Tag Q3_21_expert_review was removed from gene: PRPF6.
Tag Q3_22_rating tag was added to gene: PRPF6.
Tag Q3_22_expert_review tag was added to gene: PRPF6.
Retinal disorders v2.286 HK1 Eleanor Williams Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320
Retinal disorders v2.285 COL2A1 Ivone Leong Tag Q3_22_rating tag was added to gene: COL2A1.
Tag Q3_22_NHS_review tag was added to gene: COL2A1.
Tag Q3_22_expert_review tag was added to gene: COL2A1.
Retinal disorders v2.285 COL2A1 Ivone Leong Publications for gene: COL2A1 were set to
Retinal disorders v2.284 RGR Ivone Leong Tag Q3_22_rating tag was added to gene: RGR.
Tag Q3_22_NHS_review tag was added to gene: RGR.
Retinal disorders v2.284 RGR Ivone Leong commented on gene: RGR: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) this gene should be promoted from Amber to Green.
Retinal disorders v2.284 RGR Ivone Leong Added comment: Comment on mode of inheritance: MOI has been changed from "Both" to "Monoallelic" only based on expert review.
Retinal disorders v2.284 RGR Ivone Leong Mode of inheritance for gene: RGR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.283 RGR Ivone Leong Phenotypes for gene: RGR were changed from Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa; Retinitis pigmentosa 44, 613769 to Retinitis pigmentosa 44, OMIM:613769; Retinitis pigmentosa 44, MONDO:0013414
Retinal disorders v2.282 PRPF6 Ivone Leong Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, OMIM:613983; retinitis pigmentosa 60, MONDO:0013516
Retinal disorders v2.281 PRPF6 Ivone Leong Tag Q3_21_expert_review tag was added to gene: PRPF6.
Retinal disorders v2.281 PRPF6 Ivone Leong reviewed gene: PRPF6: Rating: ; Mode of pathogenicity: None; Publications: 31456290; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.281 PRPF6 Ivone Leong Publications for gene: PRPF6 were set to
Retinal disorders v2.280 POMT1 Ivone Leong Tag Q3_21_NHS_review tag was added to gene: POMT1.
Tag Q3_22_rating tag was added to gene: POMT1.
Retinal disorders v2.280 POMT1 Ivone Leong Classified gene: POMT1 as Amber List (moderate evidence)
Retinal disorders v2.280 POMT1 Ivone Leong Added comment: Comment on list classification: New gene added by Robert Henderson (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review this gene should be promoted to Green.
Retinal disorders v2.280 POMT1 Ivone Leong Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.279 POMT1 Ivone Leong Added comment: Comment on mode of inheritance: MOI for this gene has been changed from Monoallelic to Biallelic as this is the correct MOI.
Retinal disorders v2.279 POMT1 Ivone Leong Mode of inheritance for gene: POMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.278 POMT1 Ivone Leong Phenotypes for gene: POMT1 were changed from retinal detachment to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159
Retinal disorders v2.277 POMT1 Ivone Leong Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026
Retinal disorders v2.276 RGR Gavin Arno edited their review of gene: RGR: Added comment: The evidence for dominant disease is sufficient I think, the late frameshift is seen in several families now. There is no current data to support recessive disease; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.276 COL2A1 Robert Henderson reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32867104, 9091360, 30130436; Phenotypes: Stickler syndrome, retinal detachment, cortical cataract, congenital myopia, vitreous abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.276 C2 Arina Puzriakova Phenotypes for gene: C2 were changed from Macular Degeneration to {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489
Retinal disorders v2.275 Eleanor Williams List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35; Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; Sorsby retinal dystrophy; Doyne retinal dystrophy; R32
Retinal disorders v2.274 POMT1 Robert Henderson gene: POMT1 was added
gene: POMT1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: POMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026
Phenotypes for gene: POMT1 were set to retinal detachment
Penetrance for gene: POMT1 were set to unknown
Review for gene: POMT1 was set to GREEN
Added comment: This is currently included on numerous panels but not on the retina/posterior segment panel. It would merit inclusion on an inherited vitreoretinopathy slice.
Sources: Expert list
Retinal disorders v2.274 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Retinal disorders v2.274 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Retinal disorders v2.274 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.274 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Retinal disorders v2.273 FRMD7 Ivone Leong changed review comment from: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype.

PMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology.

PMID: 30025138 did not perform any tests to look at foveal hypoplasia.

PMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants

PMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.

As foveal hypoplasia does not appear to affect all individuals with FRMD7 variants, this gene has been referred to NHS GMS working group to determine if this gene is appropriate for this panel.; to: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype.

PMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology.

PMID: 30025138 did not perform any tests to look at foveal hypoplasia.

PMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants

PMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.

Nystagmus is the presenting feature and foveal hypoplasia does not appear to affect all individuals with FRMD7 variants. This gene is already Green on the "Albinism or congenital nystagmus" (version 1.23) panel; therefore, this gene will remain as Amber for now.
Retinal disorders v2.273 FRMD7 Ivone Leong Tag Q2_22_rating was removed from gene: FRMD7.
Tag Q2_22_expert_review was removed from gene: FRMD7.
Tag Q2_22_NHS_review was removed from gene: FRMD7.
Retinal disorders v2.273 AHR Eleanor Williams Publications for gene: AHR were set to 29726989; 31896775
Retinal disorders v2.272 AHR Eleanor Williams commented on gene: AHR
Retinal disorders v2.272 SLC38A8 Eleanor Williams commented on gene: SLC38A8: Green review from Mohammed Derar on green gene so no change in rating needed. Phenotypes updated.
Retinal disorders v2.272 SLC38A8 Eleanor Williams Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; chiasmal misrouting
Retinal disorders v2.271 PAX6 Catherine Snow reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.271 FRMD7 Ivone Leong Phenotypes for gene: FRMD7 were changed from Infantile nystagmus; foveal hypoplasia to Nystagmus 1, congenital, X-linked, OMIM:310700; Nystagmus, infantile periodic alternating, X-linked, OMIM:310700; foveal hypoplasia, MONDO:0044203
Retinal disorders v2.270 FRMD7 Ivone Leong Publications for gene: FRMD7 were set to 30025138; 24688117
Retinal disorders v2.269 FRMD7 Ivone Leong Classified gene: FRMD7 as Amber List (moderate evidence)
Retinal disorders v2.269 FRMD7 Ivone Leong Added comment: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype.

PMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology.

PMID: 30025138 did not perform any tests to look at foveal hypoplasia.

PMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants

PMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.

As foveal hypoplasia does not appear to affect all individuals with FRMD7 variants, this gene has been referred to NHS GMS working group to determine if this gene is appropriate for this panel.
Retinal disorders v2.269 FRMD7 Ivone Leong Gene: frmd7 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.268 FRMD7 Ivone Leong Tag Q2_22_rating tag was added to gene: FRMD7.
Retinal disorders v2.268 FRMD7 Ivone Leong Tag Q2_22_expert_review tag was added to gene: FRMD7.
Tag Q2_22_NHS_review tag was added to gene: FRMD7.
Retinal disorders v2.268 FRMD7 Ivone Leong Publications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)
Retinal disorders v2.267 RNU4ATAC Sarah Leigh edited their review of gene: RNU4ATAC: Added comment: Associated with relevant phenotypes in OMIM and as definitive Gen2Phen gene for Microcephalic osteodysplastic primordial dwarfism, type I (OMIM:210710) which sometimes includes features of Lowry-Wood syndrome (OMIM:226960) and Roifman syndrome (OMIM:616651) making it relevant to this ophthalimic panel. At least six variants have been reported in at least three cases of Lowry-Wood syndrome (OMIM:226960) and at least six variants have been reported in at least three cases of Roifman syndrome (OMIM:616651).
Hannah Knight (Moorfields Eye Hospital) has also reported two further variants in a case of Lowry-Wood syndrome (OMIM:226960) where the patient shows retinal dystrophy.; Changed rating: GREEN
Retinal disorders v2.267 RNU4ATAC Sarah Leigh Tag Q2_22_rating tag was added to gene: RNU4ATAC.
Tag Q2_22_NHS_review tag was added to gene: RNU4ATAC.
Retinal disorders v2.267 RNU4ATAC Sarah Leigh Classified gene: RNU4ATAC as Amber List (moderate evidence)
Retinal disorders v2.267 RNU4ATAC Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v2.267 RNU4ATAC Sarah Leigh Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.266 RNU4ATAC Sarah Leigh Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667
Retinal disorders v2.265 RNU4ATAC Sarah Leigh Phenotypes for gene: RNU4ATAC were changed from Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651
Retinal disorders v2.264 CTNNA1 Sarah Leigh Publications for gene: CTNNA1 were set to 26691986; 33497368
Retinal disorders v2.263 ARSG Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least six variants have been reported in at least five unrelated cases of Usher syndrome, type IV (OMIM:618144).; Changed rating: GREEN
Retinal disorders v2.263 ARSG Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
Retinal disorders v2.263 ARSG Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v2.263 ARSG Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.262 ARSG Sarah Leigh Tag Q2_22_rating tag was added to gene: ARSG.
Tag Q2_22_NHS_review tag was added to gene: ARSG.
Retinal disorders v2.262 ARSG Sarah Leigh Publications for gene: ARSG were set to
Retinal disorders v2.261 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV, OMIM:618144
Retinal disorders v2.260 ARSG Sarah Leigh Mode of inheritance for gene: ARSG was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.259 ARL13B Arina Puzriakova Mode of inheritance for gene: ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.258 C8orf37 Arina Puzriakova commented on gene: C8orf37
Retinal disorders v2.258 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Retinal disorders v2.258 USP45 Arina Puzriakova Tag gene-checked tag was added to gene: USP45.
Retinal disorders v2.258 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Retinal disorders v2.258 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12, OMIM:618977, MONDO:0033549 to Optic atrophy 12, OMIM:618977, MONDO:0033549; Spastic ataxia 5, autosomal recessive, OMIM:614487
Retinal disorders v2.257 AFG3L2 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS review. Two families have been reported (PMID: 32219868) with recessive disease including optic atrophy associated with hearing loss, intellectual disability and ataxia, among others. This was considered sufficient to rate as green under AD/AR inheritance on the Optic neuropathy (R41) panel and therefore this MOI should also be reflected on the Retinal disorders panel.
Retinal disorders v2.257 AFG3L2 Arina Puzriakova Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.256 AFG3L2 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: AFG3L2.
Retinal disorders v2.256 PRPF6 Zornitza Stark reviewed gene: PRPF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.256 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from Eye Disorders to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250
Retinal disorders v2.255 MYO7A Arina Puzriakova Phenotypes for gene: MYO7A were changed from Eye Disorders to Usher syndrome, type 1B, OMIM:276900
Retinal disorders v2.254 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I, 267750 to Knobloch syndrome, type 1, OMIM:267750
Retinal disorders v2.253 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Retinal disorders v2.252 CTNNB1 Arina Puzriakova Publications for gene: CTNNB1 were set to 28575650; 28514307
Retinal disorders v2.251 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678; 21937992
Retinal disorders v2.250 PEX6 Sarah Leigh commented on gene: PEX6: Retinal involvement is mentioned in Peroxisome biogenesis disorder 4B (OMIM:614863)(PMID:21937992; 22871920).
Retinal disorders v2.250 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678
Retinal disorders v2.249 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
Retinal disorders v2.248 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.248 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, OMIM:616617, MONDO:0014709 to Heimler syndrome 2, OMIM:616617; MONDO:0014709; Peroxisome biogenesis disorder 4B, OMIM:614863
Retinal disorders v2.247 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595
Retinal disorders v2.246 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Retinal disorders v2.246 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.245 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Retinal disorders v2.245 ZFYVE26 Ivone Leong Tag Q2_21_rating was removed from gene: ZFYVE26.
Retinal disorders v2.245 UNC119 Ivone Leong Tag Q2_21_rating was removed from gene: UNC119.
Retinal disorders v2.245 TUBB4B Ivone Leong Tag Q2_21_rating was removed from gene: TUBB4B.
Retinal disorders v2.245 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Retinal disorders v2.245 TMEM218 Ivone Leong Deleted their comment
Retinal disorders v2.245 MED12 Ivone Leong Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_rating was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Retinal disorders v2.245 IMPG1 Ivone Leong Tag Q3_21_MOI was removed from gene: IMPG1.
Retinal disorders v2.245 IMPG1 Ivone Leong changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 FAM57B Ivone Leong Tag Q2_21_rating was removed from gene: FAM57B.
Retinal disorders v2.245 ARL3 Ivone Leong Tag Q4_21_rating was removed from gene: ARL3.
Retinal disorders v2.245 AMACR Ivone Leong Tag Q2_21_rating was removed from gene: AMACR.
Tag Q2_21_NHS_review was removed from gene: AMACR.
Retinal disorders v2.245 AMACR Ivone Leong Deleted their comment
Retinal disorders v2.245 AMACR Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Deleted their comment
Retinal disorders v2.245 ACBD5 Ivone Leong Tag Q2_21_rating was removed from gene: ACBD5.
Retinal disorders v2.245 ZFYVE26 Ivone Leong commented on gene: ZFYVE26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 UNC119 Ivone Leong commented on gene: UNC119: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TUBB4B Ivone Leong commented on gene: TUBB4B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 MED12 Ivone Leong commented on gene: MED12
Retinal disorders v2.245 IMPG1 Ivone Leong commented on gene: IMPG1
Retinal disorders v2.245 FAM57B Ivone Leong commented on gene: FAM57B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ARL3 Ivone Leong commented on gene: ARL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2
Retinal disorders v2.245 ACBD5 Ivone Leong commented on gene: ACBD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.244 ZFYVE26 Ivone Leong Source Expert Review Green was added to ZFYVE26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 UNC119 Ivone Leong Source Expert Review Green was added to UNC119.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TUBB4B Ivone Leong Source Expert Review Green was added to TUBB4B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 IMPG1 Ivone Leong Mode of inheritance for gene IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.244 FAM57B Ivone Leong Source Expert Review Green was added to FAM57B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ARL3 Ivone Leong Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ACBD5 Ivone Leong Source Expert Review Green was added to ACBD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GRN Ivone Leong Tag for-review was removed from gene: GRN.
Retinal disorders v2.243 P3H2 Ivone Leong Tag for-review was removed from gene: P3H2.
Tag deletions tag was added to gene: P3H2.
Retinal disorders v2.243 MSTO1 Ivone Leong Tag for-review was removed from gene: MSTO1.
Retinal disorders v2.243 SSBP1 Ivone Leong Tag for-review was removed from gene: SSBP1.
Retinal disorders v2.243 HK1 Ivone Leong Tag for-review was removed from gene: HK1.
Retinal disorders v2.243 HK1 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CA4 Ivone Leong Tag for-review was removed from gene: CA4.
Retinal disorders v2.243 HARS Ivone Leong Tag for-review was removed from gene: HARS.
Retinal disorders v2.243 CIB2 Ivone Leong Tag for-review was removed from gene: CIB2.
Retinal disorders v2.243 TRIM32 Ivone Leong Tag for-review was removed from gene: TRIM32.
Retinal disorders v2.243 TUBGCP6 Ivone Leong Tag for-review was removed from gene: TUBGCP6.
Retinal disorders v2.243 PNPLA6 Ivone Leong Tag for-review was removed from gene: PNPLA6.
Retinal disorders v2.243 PLK4 Ivone Leong Tag for-review was removed from gene: PLK4.
Retinal disorders v2.243 MTTP Ivone Leong Tag for-review was removed from gene: MTTP.
Retinal disorders v2.243 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Retinal disorders v2.243 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Retinal disorders v2.243 IFT172 Ivone Leong Tag for-review was removed from gene: IFT172.
Retinal disorders v2.243 GNB3 Ivone Leong Tag for-review was removed from gene: GNB3.
Retinal disorders v2.243 CTNNA1 Ivone Leong Tag for-review was removed from gene: CTNNA1.
Tag Q1_22_NHS_review was removed from gene: CTNNA1.
Retinal disorders v2.243 CEP250 Ivone Leong Tag for-review was removed from gene: CEP250.
Retinal disorders v2.243 AFG3L2 Ivone Leong Tag for-review was removed from gene: AFG3L2.
Retinal disorders v2.243 ARL13B Ivone Leong Tag for-review was removed from gene: ARL13B.
Retinal disorders v2.243 MMACHC Ivone Leong Tag for-review was removed from gene: MMACHC.
Retinal disorders v2.243 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Retinal disorders v2.243 CTC1 Ivone Leong Tag for-review was removed from gene: CTC1.
Retinal disorders v2.243 ALPK1 Ivone Leong Tag for-review was removed from gene: ALPK1.
Tag Q4_21_NHS_review was removed from gene: ALPK1.
Retinal disorders v2.243 ABCC6 Ivone Leong Tag for-review was removed from gene: ABCC6.
Retinal disorders v2.243 SLC6A6 Ivone Leong Tag for-review was removed from gene: SLC6A6.
Retinal disorders v2.243 USP45 Ivone Leong Tag for-review was removed from gene: USP45.
Retinal disorders v2.243 DRAM2 Ivone Leong Tag for-review was removed from gene: DRAM2.
Retinal disorders v2.243 TINF2 Ivone Leong Tag for-review was removed from gene: TINF2.
Retinal disorders v2.243 TMEM216 Ivone Leong Tag for-review was removed from gene: TMEM216.
Retinal disorders v2.243 ROM1 Ivone Leong Tag for-review was removed from gene: ROM1.
Retinal disorders v2.243 TUBGCP4 Ivone Leong Tag for-review was removed from gene: TUBGCP4.
Retinal disorders v2.243 TRNT1 Ivone Leong Tag for-review was removed from gene: TRNT1.
Retinal disorders v2.243 TREX1 Ivone Leong Tag for-review was removed from gene: TREX1.
Retinal disorders v2.243 PRDM13 Ivone Leong Tag for-review was removed from gene: PRDM13.
Retinal disorders v2.243 POMGNT1 Ivone Leong Tag for-review was removed from gene: POMGNT1.
Retinal disorders v2.243 PAX2 Ivone Leong Tag for-review was removed from gene: PAX2.
Retinal disorders v2.243 NEUROD1 Ivone Leong Tag for-review was removed from gene: NEUROD1.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Tag for-review was removed from gene: TRAF3IP1.
Retinal disorders v2.243 TMEM231 Ivone Leong Tag for-review was removed from gene: TMEM231.
Retinal disorders v2.243 RIMS2 Ivone Leong Tag for-review was removed from gene: RIMS2.
Retinal disorders v2.243 PEX6 Ivone Leong Tag for-review was removed from gene: PEX6.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: Submitted on behalf of NHS GMS "Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature." and "This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant."
Retinal disorders v2.243 P3H2 Ivone Leong commented on gene: P3H2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MSTO1 Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SSBP1 Ivone Leong commented on gene: SSBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.
Retinal disorders v2.243 CA4 Ivone Leong commented on gene: CA4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HARS Ivone Leong commented on gene: HARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CIB2 Ivone Leong commented on gene: CIB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRIM32 Ivone Leong commented on gene: TRIM32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP6 Ivone Leong commented on gene: TUBGCP6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PNPLA6 Ivone Leong commented on gene: PNPLA6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PLK4 Ivone Leong commented on gene: PLK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MTTP Ivone Leong commented on gene: MTTP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT27 Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT172 Ivone Leong commented on gene: IFT172: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GRN Ivone Leong commented on gene: GRN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GNB3 Ivone Leong commented on gene: GNB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTNNA1 Ivone Leong commented on gene: CTNNA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CEP250 Ivone Leong commented on gene: CEP250: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ARL13B Ivone Leong commented on gene: ARL13B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 AFG3L2 Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MMACHC Ivone Leong commented on gene: MMACHC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTC1 Ivone Leong commented on gene: CTC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ALPK1 Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ABCC6 Ivone Leong commented on gene: ABCC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SLC6A6 Ivone Leong commented on gene: SLC6A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 USP45 Ivone Leong commented on gene: USP45: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 DRAM2 Ivone Leong commented on gene: DRAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TINF2 Ivone Leong commented on gene: TINF2
Retinal disorders v2.243 TMEM216 Ivone Leong commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ROM1 Ivone Leong commented on gene: ROM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRNT1 Ivone Leong commented on gene: TRNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TREX1 Ivone Leong commented on gene: TREX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PRDM13 Ivone Leong commented on gene: PRDM13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 POMGNT1 Ivone Leong commented on gene: POMGNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PAX2 Ivone Leong commented on gene: PAX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 NEUROD1 Ivone Leong commented on gene: NEUROD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong commented on gene: TRAF3IP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TMEM231 Ivone Leong commented on gene: TMEM231: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 RIMS2 Ivone Leong commented on gene: RIMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PEX6 Ivone Leong commented on gene: PEX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 P3H2 Ivone Leong Source Expert Review Green was added to P3H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MSTO1 Ivone Leong Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SSBP1 Ivone Leong Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 HK1 Ivone Leong Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CA4 Ivone Leong Source Expert Review Red was added to CA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Retinal disorders v2.243 HARS Ivone Leong Source Expert Review Red was added to HARS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 CIB2 Ivone Leong Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TRIM32 Ivone Leong Source Expert Review Red was added to TRIM32.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TUBGCP6 Ivone Leong Source Expert Review Green was added to TUBGCP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PNPLA6 Ivone Leong Source Expert Review Green was added to PNPLA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PLK4 Ivone Leong Source Expert Review Green was added to PLK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MTTP Ivone Leong Source Expert Review Green was added to MTTP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT172 Ivone Leong Source Expert Review Green was added to IFT172.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GRN Ivone Leong Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GNB3 Ivone Leong Source Expert Review Green was added to GNB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTNNA1 Ivone Leong Source Expert Review Green was added to CTNNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CEP250 Ivone Leong Source Expert Review Green was added to CEP250.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ARL13B Ivone Leong Source Expert Review Green was added to ARL13B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 AFG3L2 Ivone Leong Source Expert Review Green was added to AFG3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MMACHC Ivone Leong Source Expert Review Green was added to MMACHC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTC1 Ivone Leong Source Expert Review Green was added to CTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ALPK1 Ivone Leong Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ABCC6 Ivone Leong Source Expert Review Green was added to ABCC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SLC6A6 Ivone Leong Source Expert Review Green was added to SLC6A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 USP45 Ivone Leong Source Expert Review Green was added to USP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 DRAM2 Ivone Leong Source Expert Review Green was added to DRAM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TINF2 Ivone Leong Source Expert Review Green was added to TINF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM216 Ivone Leong Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ROM1 Ivone Leong Source Expert Review Green was added to ROM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TUBGCP4 Ivone Leong Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRNT1 Ivone Leong Source Expert Review Green was added to TRNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TREX1 Ivone Leong Source Expert Review Green was added to TREX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PRDM13 Ivone Leong Source Expert Review Green was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 POMGNT1 Ivone Leong Source Expert Review Green was added to POMGNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PAX2 Ivone Leong Source Expert Review Green was added to PAX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 NEUROD1 Ivone Leong Source Expert Review Green was added to NEUROD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM231 Ivone Leong Source Expert Review Green was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 RIMS2 Ivone Leong Source Expert Review Green was added to RIMS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.242 SLC38A8 Mohammed Derar reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: Poulter et al (2013) (PMID: 24290379), Campbell et al. (2019) (DOI: 31719542); Phenotypes: foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis, nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 FRMD7 Mohammed Derar gene: FRMD7 was added
gene: FRMD7 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)
Phenotypes for gene: FRMD7 were set to Infantile nystagmus; foveal hypoplasia
Penetrance for gene: FRMD7 were set to unknown
Review for gene: FRMD7 was set to GREEN
Added comment: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014)
Sources: Literature
Retinal disorders v2.242 AHR Mohammed Derar reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: Zhou et al. (2018) (PMID: 29726989), Mayer et al. (2019) (PMID: 31009037); Phenotypes: Retinitis pigmentosa, Foveal hypoplasia, infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 PAX6 Mohammed Derar reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: Hingorani et al. (2009) (PMID: 19218613), Thomas et al (2014) (PMID: 23942204); Phenotypes: foveal hypoplasia, optic nerve hypoplasia, anirdia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.242 ARL13B Ronnie Wright reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 CTNNA1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CTNNA1.
Retinal disorders v2.242 CTNNA1 Hannah Knight reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26691986, 33137351; Phenotypes: Macular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.242 ARSG Hannah Knight changed review comment from: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4); to: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4)
Retinal disorders v2.242 ARSG Hannah Knight reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32455177, 33629623, 29300381, 33300174; Phenotypes: Retinal dystrophy, late-onset sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 RNU4ATAC Hannah Knight gene: RNU4ATAC was added
gene: RNU4ATAC was added to Retinal disorders. Sources: Expert Review,Literature
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667
Phenotypes for gene: RNU4ATAC were set to Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature
Penetrance for gene: RNU4ATAC were set to Complete
Review for gene: RNU4ATAC was set to GREEN
Added comment: Noted by OMIM to cause Roifman and Lowry-Wood syndrome, both of which have been associated with retinal dystrophy in the literature
Submitted to PanelApp as we have a patient with Lowry-Wood syndrome and a retinal dystrophy, where we believe we have found two pathogenic variants in RNU4ATAC
Sources: Expert Review, Literature
Retinal disorders v2.242 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Retinal disorders v2.241 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 33693784
Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome
Review for gene: PAK2 was set to RED
Added comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity.
Sources: Literature
Retinal disorders v2.240 SSBP1 Sarah Leigh Tag Q1_22_MOI tag was added to gene: SSBP1.
Retinal disorders v2.240 SSBP1 Sarah Leigh reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.240 SSBP1 Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Retinal disorders v2.239 ALPK1 Ivone Leong Tag Q4_21_NHS_review tag was added to gene: ALPK1.
Retinal disorders v2.239 ALPK1 Ivone Leong Added comment: Comment on publications: Added new publication (PMID:31053777;34159509).
Retinal disorders v2.239 ALPK1 Ivone Leong Publications for gene: ALPK1 were set to 30967659; 31939038
Retinal disorders v2.238 HKDC1 Ivone Leong Classified gene: HKDC1 as Red List (low evidence)
Retinal disorders v2.238 HKDC1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (limited). PMID: 30085091 also describes a mouse knockout model. In the mouse model, the retinal degeneration phenotypes were mild (like that seen in humans) and did not have retinal phenotypes until 9 months (similar to the late onset in humans). There is currently not enough evidence to support a gene-disease association. This gene is borderline Red/Amber.
Retinal disorders v2.238 HKDC1 Ivone Leong Gene: hkdc1 has been classified as Red List (Low Evidence).
Retinal disorders v2.237 HKDC1 Ivone Leong Phenotypes for gene: HKDC1 were changed from Retinitis pigmentosa 92, MIM# 619614 to Retinitis pigmentosa 92, OMIM:619614
Retinal disorders v2.236 ALPK1 Neringa Jurkute changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases.

PMID: 30967659; 31053777; 31939038; 34159509; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal changes, chronic disc swelling observed in majority of cases.

OMIM: 614979

PMID: 30967659; 31053777; 31939038; 34159509
Retinal disorders v2.236 ALPK1 Neringa Jurkute changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases.

PMID: 30967659; 31053777; 31939038; 34159509; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases.

PMID: 30967659; 31053777; 31939038; 34159509
Retinal disorders v2.236 ALPK1 Neringa Jurkute reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30967659, 31053777, 31939038, 34159509; Phenotypes: Retinal dystrophy, optic disc swelling, splenomegaly, headaches, ocular inflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.236 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Retinal disorders. Sources: Literature
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: Literature
Retinal disorders v2.236 ELOVL1 Arina Puzriakova Mode of inheritance for gene: ELOVL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.235 ELOVL1 Arina Puzriakova Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Retinal disorders v2.234 TMEM218 Ivone Leong Entity copied from Neurological ciliopathies v1.24
Retinal disorders v2.234 TMEM218 Ivone Leong gene: TMEM218 was added
gene: TMEM218 was added to Retinal disorders. Sources: Literature,Expert Review Amber
Q4_21_rating, Q4_21_NHS_review tags were added to gene: TMEM218.
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
Retinal disorders v2.233 ATXN7 Arina Puzriakova Mode of pathogenicity for gene: ATXN7 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
Retinal disorders v2.232 ATXN7 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.
Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Retinal disorders v2.232 ATXN7 Arina Puzriakova Classified gene: ATXN7 as Red List (low evidence)
Retinal disorders v2.232 ATXN7 Arina Puzriakova Gene: atxn7 has been classified as Red List (Low Evidence).
Retinal disorders v2.231 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Retinal disorders v2.231 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from to Other
Retinal disorders v2.230 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from to Spinocerebellar ataxia 7, OMIM:164500
Retinal disorders v2.229 ERCC6 Ivone Leong Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B 133540 to Cockayne syndrome, type B, OMIM:133540
Retinal disorders v2.228 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 59, 613861 to Retinitis pigmentosa 59, OMIM:613861
Retinal disorders v2.227 COL9A2 Arina Puzriakova Phenotypes for gene: COL9A2 were changed from Eye Disorders to Stickler syndrome, type V, OMIM:614284
Retinal disorders v2.226 COL9A2 Arina Puzriakova Mode of inheritance for gene: COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.225 COL9A1 Arina Puzriakova Phenotypes for gene: COL9A1 were changed from Eye Disorders to Stickler syndrome, type IV, OMIM:614134
Retinal disorders v2.224 COL9A1 Arina Puzriakova Mode of inheritance for gene: COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.223 COL11A1 Arina Puzriakova Phenotypes for gene: COL11A1 were changed from Eye Disorders to Stickler syndrome, type II, OMIM:604841
Retinal disorders v2.222 ARL3 Ivone Leong edited their review of gene: ARL3: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome). There is enough evidence to support a gene-disease association for both MOIs. This gene should be rated as Green at the next review.; Changed rating: GREEN
Retinal disorders v2.222 ARL3 Ivone Leong Tag Q4_21_rating tag was added to gene: ARL3.
Retinal disorders v2.222 ARL3 Ivone Leong Mode of inheritance for gene: ARL3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.221 ARL3 Ivone Leong Phenotypes for gene: ARL3 were changed from to Joubert syndrome 35, OMIM:61816; cone-rod dystrophy, MONDO:0015993; Retinitis pigmentosa 83, OMIM:618173
Retinal disorders v2.220 ARL3 Ivone Leong Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.

PMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.

PMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.

PMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.

PMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.

PMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.

PMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.
Retinal disorders v2.220 ARL3 Ivone Leong Publications for gene: ARL3 were set to
Retinal disorders v2.219 BEST1 Eleanor Williams changed review comment from: Review of mode of inheritance:
Macular dystrophy, vitelliform, 2 OMIM:153700 - many heterozygous cases reported

OMIM also lists Bestrophinopathy, autosomal recessive OMIM:611809 and Retinitis pigmentosa, concentric and Retinitis pigmentosa-50 OMIM:613194 but with no inheritance pattern listed.

Reports for 11 biallelic cases:

PMID: 18179881 Burgess et al 2008 - report on the analysis of the BEST1 gene in 7 affected individuals from 5 unrelated families of European ethnicity. Clinical electrophysiology of affected individuals showed abnormal full-field ERGs in addition to a severe reduction in the electrooculogram (EOG) light rise analogous to that seen with dominant BEST1 mutations that cause both Best disease and autosomal-dominant vitreoretinochoroidopathy. In all families homozygous or compound het variants in BEST1 were found (6 missense, 1 nonsense). 10 asymptomatic heterozygotes were examined in detail and were found to have a normal retinal examination, ERG responses, and EOG light rise.

PMID: 34327816 - Nowomiejska et al 2021 - in retrospective variant-phenotype analysis they report 6 patients with either homozygous or compound het variants in BEST1, aswell as 24 patients with heterozygous variants.; to: Review of mode of inheritance:
Macular dystrophy, vitelliform, 2 OMIM:153700 - many heterozygous cases reported

OMIM also lists Bestrophinopathy, autosomal recessive OMIM:611809 and Retinitis pigmentosa, concentric and Retinitis pigmentosa-50 OMIM:613194 but with no inheritance pattern listed.

Reports for 11 biallelic cases:

PMID: 18179881 Burgess et al 2008 - report on the analysis of the BEST1 gene in 7 affected individuals from 5 unrelated families of European ethnicity. Clinical electrophysiology of affected individuals showed abnormal full-field ERGs in addition to a severe reduction in the electrooculogram (EOG) light rise analogous to that seen with dominant BEST1 mutations that cause both Best disease and autosomal-dominant vitreoretinochoroidopathy. In all families homozygous or compound het variants in BEST1 were found (6 missense, 1 nonsense). 10 asymptomatic heterozygotes were examined in detail and were found to have a normal retinal examination, ERG responses, and EOG light rise.

PMID: 34327816 - Nowomiejska et al 2021 - in a retrospective variant-phenotype analysis they report 6 patients with either homozygous or compound het variants in BEST1, aswell as 24 patients with heterozygous variants.
Retinal disorders v2.219 BEST1 Eleanor Williams Added comment: Comment on phenotypes: Was Achromatopsia, Cone, and Cone-rod Dystrophy; Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD); Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Best Vitelliform Macular Dystrophy;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Best macular dystrophy, 153700;Macular Dystrophy/Degeneration/Stargardt Disease;Macular Dystrophy, Vitelliform; VMD;Macular Dystrophy, Vitelliform, Adult-Onset;Best macular dystrophy
Retinal disorders v2.219 BEST1 Eleanor Williams Phenotypes for gene: BEST1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD); Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Best Vitelliform Macular Dystrophy; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Best macular dystrophy, 153700; Macular Dystrophy/Degeneration/Stargardt Disease; Macular Dystrophy, Vitelliform; VMD; Macular Dystrophy, Vitelliform, Adult-Onset; Best macular dystrophy to ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220; Bestrophinopathy, autosomal recessive , OMIM:611809; Macular dystrophy, vitelliform, 2, OMIM:153700; Retinitis pigmentosa, concentric, OMIM:613194; Retinitis pigmentosa-50, OMIM:613194; Vitreoretinochoroidopathy, OMIM:193220
Retinal disorders v2.218 BEST1 Eleanor Williams Publications for gene: BEST1 were set to
Retinal disorders v2.217 BEST1 Eleanor Williams Added comment: Comment on mode of inheritance: Review of mode of inheritance in Oct 2021 - there are cases of both biallelic and monoallelic inheritance related to a retinal disorder.
Retinal disorders v2.217 BEST1 Eleanor Williams Mode of inheritance for gene: BEST1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.216 BEST1 Eleanor Williams reviewed gene: BEST1: Rating: ; Mode of pathogenicity: None; Publications: 18179881, 34327816; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.216 MED12 Eleanor Williams Tag Q3_21_MOI tag was added to gene: MED12.
Retinal disorders v2.216 MED12 Eleanor Williams Tag Skewed X-inactivation tag was added to gene: MED12.
Retinal disorders v2.216 IRX6 Eleanor Williams Tag Q3_21_rating tag was added to gene: IRX6.
Tag Q3_21_expert_review tag was added to gene: IRX6.
Retinal disorders v2.216 IRX6 Eleanor Williams edited their review of gene: IRX6: Added comment: Ideally, a region representing the IRX5/IRX6 duplication should be added to PanelApp with a monallelic mode of inheritance. There is a lack of single nucleotide variants reported in this gene with relevance to retinal disorders and and therefore adding this gene as green risks reporting irrelevant SNVs.; Changed rating: AMBER
Retinal disorders v2.216 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)

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).
; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)

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 gene/small variants
---------
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).
Retinal disorders v2.216 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed rating: AMBER
Retinal disorders v2.216 IRX5 Eleanor Williams commented on gene: IRX5: Ideally, a region representing the IRX5/IRX6 duplication should be added to PanelApp with a monallelic mode of inheritance. There is a lack of single nucleotide variants reported in this gene with relevance to retinal disorders and and therefore adding this gene as green risks reporting irrelevant SNVs alongside carrier status for Hamamy syndrome (biallelic)
Retinal disorders v2.216 IRX5 Eleanor Williams Tag Q3_21_expert_review tag was added to gene: IRX5.
Retinal disorders v2.216 MED12 Eleanor Williams Tag Q3_21_rating tag was added to gene: MED12.
Retinal disorders v2.216 MED12 Eleanor Williams Added comment: Comment on mode of inheritance: X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
Retinal disorders v2.216 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v2.215 MED12 Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence)
Retinal disorders v2.215 MED12 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with a recommendation for green rating following GMS review. 5 cases reported with a retinal phenotype and likely disease causing variants in MED12.
Retinal disorders v2.215 MED12 Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.214 MED12 Eleanor Williams gene: MED12 was added
gene: MED12 was added to Retinal disorders. Sources: Literature
Q3_21_expert_review tags were added to gene: MED12.
Mode of inheritance for gene: MED12 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: MED12 were set to 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997
Review for gene: MED12 was set to GREEN
Added comment: Zorntiza Stark reviewed this gene on the Clefting panel. Li et al 2021 (PMID: 33244166) report 7 females with Hardikar syndrome each of whom have had a nonsense or frameshift MED12 variant identified by exome sequencing. All five tested patients showed evidence of skewed x chromosome inactivation. 5 of the patients are reported to have a retinal phenotype (retinal rarefaction, pigmentary retinopathy, cat’s paw retinal pigmentation).

Hardikar syndrome is noted for the preserved neurodevelopment in patients unlike the other disorders associated with this gene.
Sources: Literature
Retinal disorders v2.213 SPTLC2 Ivone Leong Classified gene: SPTLC2 as Red List (low evidence)
Retinal disorders v2.213 SPTLC2 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.

Affected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.

As there is only one case, there is not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Retinal disorders v2.213 SPTLC2 Ivone Leong Gene: sptlc2 has been classified as Red List (Low Evidence).
Retinal disorders v2.212 SPTLC2 Ivone Leong Publications for gene: SPTLC2 were set to PMID: 31509666
Retinal disorders v2.211 SPTLC1 Ivone Leong Tag watchlist tag was added to gene: SPTLC1.
Retinal disorders v2.211 SPTLC1 Ivone Leong Classified gene: SPTLC1 as Amber List (moderate evidence)
Retinal disorders v2.211 SPTLC1 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.

Affected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.

While there appears to be a link between this gene and macular telangiectasia type 2, all affected families/individuals have the same variant. Therefore, there is currently enough evidence to support a gene-disease association. This gene has been given an Amber rating until more information is available.
Retinal disorders v2.211 SPTLC1 Ivone Leong Gene: sptlc1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.210 SPTLC1 Ivone Leong Publications for gene: SPTLC1 were set to PMID: 31509666
Retinal disorders v2.209 SPTLC2 Dmitrijs Rots gene: SPTLC2 was added
gene: SPTLC2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to PMID: 31509666
Phenotypes for gene: SPTLC2 were set to macular telangiectasia type 2; vision loss; neuropathy
Penetrance for gene: SPTLC2 were set to unknown
Review for gene: SPTLC2 was set to GREEN
Added comment: Common feature of HSAN1 macular telangiectasia type 2 and identified in two families with primarily diagnosed macular telangiectasia type 2 in PMID: 31509666.
Sources: Literature
Retinal disorders v2.209 SPTLC1 Dmitrijs Rots gene: SPTLC1 was added
gene: SPTLC1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to PMID: 31509666
Phenotypes for gene: SPTLC1 were set to macular telangiectasia type 2; vision loss
Penetrance for gene: SPTLC1 were set to unknown
Review for gene: SPTLC1 was set to GREEN
Added comment: Common feature of HSAN1 macular telangiectasia type 2 and identified in two families with primarily diagnosed macular telangiectasia type 2 in PMID: 31509666.
Sources: Literature
Retinal disorders v2.209 LRP1 Ivone Leong Classified gene: LRP1 as Red List (low evidence)
Retinal disorders v2.209 LRP1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Retinal disorders v2.209 LRP1 Ivone Leong Gene: lrp1 has been classified as Red List (Low Evidence).
Retinal disorders v2.208 LRP1 Zornitza Stark gene: LRP1 was added
gene: LRP1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: LRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP1 were set to 33776059
Phenotypes for gene: LRP1 were set to Macular drusen
Review for gene: LRP1 was set to RED
Added comment: PMID: 33776059 - 2x unrelated individuals with compound heterozygous missense variants and inherited retinal disorder/macular drusen. No functional data.
Sources: Literature
Retinal disorders v2.208 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, OMIM:118450
Retinal disorders v2.207 JAG1 Arina Puzriakova Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.206 ALDH3A2 Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence)
Retinal disorders v2.206 ALDH3A2 Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (>3) with retinal abnormalities associated with variants in this gene to warrant a Green rating at the next GMS panel update.
Retinal disorders v2.206 ALDH3A2 Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.205 ALDH3A2 Arina Puzriakova gene: ALDH3A2 was added
gene: ALDH3A2 was added to Retinal disorders. Sources: Literature
Q3_21_rating tags were added to gene: ALDH3A2.
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 25784589; 29071827; 29183715; 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200
Review for gene: ALDH3A2 was set to GREEN
Added comment: Biallelic variants in this gene are associated with Sjogren-Larsson syndrome (MIM# 270200). Some affected individuals exhibit ocular manifestations which include a distinctive retinal abnormality characterised by macular degeneration with perifoveal crystalline inclusions (also referred to as glistening white dots) which develop in the first few years of life. There are also some reports of patients with retinal pigmentary degeneration in the macular region and thinning of the retinal layers.
Sources: Literature
Retinal disorders v2.204 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Retinal disorders v2.203 C12orf65 Arina Puzriakova Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.202 IMPG1 Arina Puzriakova Classified gene: IMPG1 as Green List (high evidence)
Retinal disorders v2.202 IMPG1 Arina Puzriakova Gene: impg1 has been classified as Green List (High Evidence).
Retinal disorders v2.201 IMPG1 Arina Puzriakova Classified gene: IMPG1 as Amber List (moderate evidence)
Retinal disorders v2.201 IMPG1 Arina Puzriakova Gene: impg1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.200 IMPG1 Arina Puzriakova Added comment: Comment on mode of inheritance: There is sufficient evidence to support the pathogenicity of both mono- and biallelic variant in the context of retinal disorders - and therefore, the MOI should be changed from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.
Retinal disorders v2.200 IMPG1 Arina Puzriakova Mode of inheritance for gene: IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.199 IMPG1 Arina Puzriakova commented on gene: IMPG1: Penetrance for gene IMPG1 was set to 'Incomplete' - asymptomatic heterozygous carriers of IMPG1 variants with normal clinical examinations have been observed (PMIDs: 23993198 and 32817297) indicating incomplete penetrance
Retinal disorders v2.199 IMPG1 Arina Puzriakova Penetrance for gene IMPG1 was set from to Complete
Tag Q3_21_MOI tag was added to IMPG1.
Retinal disorders v2.198 IMPG1 Arina Puzriakova Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200
Retinal disorders v2.197 IMPG1 Arina Puzriakova Publications for gene: IMPG1 were set to
Retinal disorders v2.196 IMPG1 Arina Puzriakova edited their review of gene: IMPG1: Changed phenotypes to: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa, MONDO:0019200
Retinal disorders v2.196 IMPG1 Arina Puzriakova reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993198, 28644393, 30589393, 30688845, 32817297; Phenotypes: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.196 Ivone Leong List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35; Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy
Panel version 2.195 has been signed off on 2021-08-05
Retinal disorders v2.195 CRB1 Ivone Leong Added comment: Comment on phenotypes: Previously:
Leber Congenital Amaurosis;Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa-12, autosomal recessive, 600105
Retinal disorders v2.195 CRB1 Ivone Leong Phenotypes for gene: CRB1 were changed from Leber Congenital Amaurosis; Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa-12, autosomal recessive, 600105 to Leber Congenital Amaurosis, OMIM:613835; Retinitis pigmentosa-12, OMIM:600105
Retinal disorders v2.194 TSPAN12 Ivone Leong Phenotypes for gene: TSPAN12 were changed from Eye Disorders to Eye Disorders; Exudative vitreoretinopathy 5, OMIM:613310
Retinal disorders v2.193 IRX6 Eleanor Williams Tag cnv tag was added to gene: IRX6.
Retinal disorders v2.193 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed phenotypes to: cone dystrophy, MONDO:0000455, retinitis pigmentosa, MONDO:0019200
Retinal disorders v2.193 IRX6 Eleanor Williams changed review comment from: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol 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.
Sources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.

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.
Sources: Literature
Retinal disorders v2.193 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

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).
; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)

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).
Retinal disorders v2.193 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed publications to: 33891002, 28041643, 32045705, 22581230, 17230486
Retinal disorders v2.193 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol 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.

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. ; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

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).
Retinal disorders v2.193 IRX5 Eleanor Williams Phenotypes for gene: IRX5 were changed from cone dystrophy, MONDO:0000455 to cone dystrophy, MONDO:0000455; retinitis pigmentosa, MONDO:0019200
Retinal disorders v2.192 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol 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.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol 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.

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.
Retinal disorders v2.192 IRX5 Eleanor Williams Tag cnv tag was added to gene: IRX5.
Tag Q3_21_rating tag was added to gene: IRX5.
Retinal disorders v2.192 IRX5 Eleanor Williams Phenotypes for gene: IRX5 were changed from Retinitis pigmentosa to cone dystrophy, MONDO:0000455
Retinal disorders v2.191 IRX5 Eleanor Williams Publications for gene: IRX5 were set to 28041643
Retinal disorders v2.190 IRX5 Eleanor Williams Mode of pathogenicity for gene: IRX5 was changed from to Other
Retinal disorders v2.189 IRX5 Eleanor Williams Mode of inheritance for gene: IRX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.188 IRX6 Eleanor Williams changed review comment from: PMID: 33891002 - Khol 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.
Sources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol 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.
Sources: Literature
Retinal disorders v2.188 IRX6 Eleanor Williams edited their review of gene: IRX6: Changed rating: GREEN
Retinal disorders v2.188 IRX6 Eleanor Williams gene: IRX6 was added
gene: IRX6 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX6 was set to Other
Added comment: PMID: 33891002 - Khol 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.
Sources: Literature
Retinal disorders v2.187 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed mode of pathogenicity: Other
Retinal disorders v2.187 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol et al 2021 - report 3 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.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol 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.
Retinal disorders v2.187 IRX5 Eleanor Williams reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33891002; Phenotypes: cone dystrophy, MONDO:0000455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.187 ZPR1 Ivone Leong Entity copied from Growth failure in early childhood v1.70
Retinal disorders v2.187 ZPR1 Ivone Leong gene: ZPR1 was added
gene: ZPR1 was added to Retinal disorders. Sources: Expert Review Red,Literature
founder-effect tags were added to gene: ZPR1.
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Retinal disorders v2.186 LIG3 Ivone Leong Tag Q2_21_rating was removed from gene: LIG3.
Tag watchlist tag was added to gene: LIG3.
Retinal disorders v2.186 LIG3 Ivone Leong edited their review of gene: LIG3: Added comment: As only 2 affected families have macular degeneration this gene has been given an Amber rating until more evidence is available.; Changed rating: AMBER
Retinal disorders v2.186 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Retinal disorders v2.186 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to Retinal disorders. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: LIG3.
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion
Retinal disorders v2.185 FAM57B Ivone Leong Classified gene: FAM57B as Amber List (moderate evidence)
Retinal disorders v2.185 FAM57B Ivone Leong Added comment: Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.185 FAM57B Ivone Leong Gene: fam57b has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.184 FAM57B Ivone Leong Tag Q2_21_rating tag was added to gene: FAM57B.
Retinal disorders v2.184 ACBD5 Arina Puzriakova Publications for gene: ACBD5 were set to 27799409; 23105016
Retinal disorders v2.183 ACBD5 Arina Puzriakova Classified gene: ACBD5 as Amber List (moderate evidence)
Retinal disorders v2.183 ACBD5 Arina Puzriakova Added comment: Comment on list classification: There is are now sufficient unrelated cases (4) of retinal dystrophy in patients with biallelic ACBD5 variants to promote this gene to Green at the next GMS panel update.
Retinal disorders v2.183 ACBD5 Arina Puzriakova Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.182 ACBD5 Arina Puzriakova Tag watchlist was removed from gene: ACBD5.
Tag Q2_21_rating tag was added to gene: ACBD5.
Retinal disorders v2.182 ACBD5 Arina Puzriakova commented on gene: ACBD5: A fourth individual was identified by Dr Helen Brittain (Genomics England Clinical Fellow) who presented with retinal dystrophy, ataxia and developmental regression at 2 yrs old
Retinal disorders v2.182 ACBD5 Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.182 FAM57B Ivone Leong Phenotypes for gene: FAM57B were changed from Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993; Maculopathy
Retinal disorders v2.181 FAM57B Ivone Leong Publications for gene: FAM57B were set to 28041643
Retinal disorders v2.180 FAM57B Ivone Leong Mode of inheritance for gene: FAM57B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.179 CTNNA1 Ivone Leong Phenotypes for gene: CTNNA1 were changed from Macular dystrophy, patterned, 2, OMIM:608970 to Macular dystrophy, patterned, 2, OMIM:608970; exudative vitreoretinopathy, MONDO:0019516
Retinal disorders v2.178 CTNNA1 Ivone Leong Publications for gene: CTNNA1 were set to 26691986
Retinal disorders v2.177 CTNNA1 Zornitza Stark edited their review of gene: CTNNA1: Added comment: In addition, three independent families reported with familial exudative vitreoretinopathy (FEVR) in PMID33497368.; Changed publications: 26691986, 33497368; Changed phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy
Retinal disorders v2.177 FAM57B Zornitza Stark reviewed gene: FAM57B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33077892; Phenotypes: Cone–rod dystrophy, Maculopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v2.177 AMACR Ivone Leong Classified gene: AMACR as Amber List (moderate evidence)
Retinal disorders v2.177 AMACR Ivone Leong Added comment: Comment on list classification: New gene added by Hannah Knight (Moorfields Eye Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.177 AMACR Ivone Leong Gene: amacr has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.176 AMACR Ivone Leong Tag Q2_21_rating tag was added to gene: AMACR.
Tag Q2_21_NHS_review tag was added to gene: AMACR.
Retinal disorders v2.176 AMACR Ivone Leong Phenotypes for gene: AMACR were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200; Alpha-methylacyl-CoA racemase deficiency, OMIM:614307
Retinal disorders v2.175 AMACR Ivone Leong Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Retinal disorders v2.174 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Retinal disorders v2.173 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Retinal disorders v2.172 AMACR Hannah Knight gene: AMACR was added
gene: AMACR was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Phenotypes for gene: AMACR were set to Retinitis pigmentosa
Penetrance for gene: AMACR were set to Complete
Mode of pathogenicity for gene: AMACR was set to Other
Review for gene: AMACR was set to GREEN
Added comment: Only three reported mutations to our knowledge:
c.154T>C; p.Ser52Pro (most common)
c.367G>A; p.Asp123Asn
c.559G>A; p.Gly187Arg

For some patients, the retinal disorder can be the first manifestation of the condition, prior to developing neurological symptoms. We believe this gene should be on the retinal disorders panel to enable a quicker diagnosis and pre-emptive referrals to neurology.
Sources: Literature
Retinal disorders v2.172 EVR3 Arina Puzriakova Tag curated_removed tag was added to gene: EVR3.
Retinal disorders v2.172 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Retinal disorders v2.172 C12orf65 Catherine Snow commented on gene: C12orf65
Retinal disorders v2.172 ZFYVE26 Ivone Leong Classified gene: ZFYVE26 as Amber List (moderate evidence)
Retinal disorders v2.172 ZFYVE26 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.172 ZFYVE26 Ivone Leong Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.171 ZFYVE26 Ivone Leong Tag Q2_21_rating tag was added to gene: ZFYVE26.
Retinal disorders v2.171 ZFYVE26 Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555; 19805727
Retinal disorders v2.170 ZFYVE26 Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555
Retinal disorders v2.169 ZFYVE26 Ivone Leong Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive MIM#270700 to Spastic paraplegia 15, autosomal recessive OMIM:270700
Retinal disorders v2.168 UNC119 Ivone Leong Classified gene: UNC119 as Amber List (moderate evidence)
Retinal disorders v2.168 UNC119 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. Based on the available evidence there are 2 independent cases with an animal model, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.168 UNC119 Ivone Leong Gene: unc119 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.167 UNC119 Ivone Leong Tag Q2_21_rating tag was added to gene: UNC119.
Retinal disorders v2.167 WDPCP Ivone Leong Phenotypes for gene: WDPCP were changed from Eye Disorders to Bardet-Biedl syndrome 15, OMIM:615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085
Retinal disorders v2.166 WDPCP Ivone Leong Added comment: Comment on publications: New publications added
Retinal disorders v2.166 WDPCP Ivone Leong Publications for gene: WDPCP were set to
Retinal disorders v2.165 UNC119 Ivone Leong Publications for gene: UNC119 were set to
Retinal disorders v2.164 TUBB4B Ivone Leong Tag Q2_21_rating tag was added to gene: TUBB4B.
Retinal disorders v2.164 TUBB4B Ivone Leong Classified gene: TUBB4B as Amber List (moderate evidence)
Retinal disorders v2.164 TUBB4B Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Retinal disorders v2.164 TUBB4B Ivone Leong Gene: tubb4b has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.163 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Retinal disorders v2.163 TUBGCP4 Ivone Leong Tag for-review tag was added to gene: TUBGCP4.
Retinal disorders v2.163 TUBGCP4 Ivone Leong Added comment: Comment on publications: PMID: 33137195 extra case
Retinal disorders v2.163 TUBGCP4 Ivone Leong Publications for gene: TUBGCP4 were set to 25817018; 32270730
Retinal disorders v2.162 TUBGCP4 Ivone Leong Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
Retinal disorders v2.161 TUBGCP4 Ivone Leong Publications for gene: TUBGCP4 were set to
Retinal disorders v2.160 TUBGCP4 Ivone Leong Mode of inheritance for gene: TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.159 TUBB4B Ivone Leong Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness, OMIM:617879
Retinal disorders v2.158 TRNT1 Ivone Leong commented on gene: TRNT1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Retinal disorders v2.158 TRNT1 Ivone Leong Tag for-review tag was added to gene: TRNT1.
Retinal disorders v2.158 TRNT1 Ivone Leong Mode of inheritance for gene: TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.157 TRNT1 Ivone Leong Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Retinal disorders v2.156 TRNT1 Ivone Leong Publications for gene: TRNT1 were set to
Retinal disorders v2.155 TRIM32 Ivone Leong reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.155 TRIM32 Ivone Leong Tag for-review tag was added to gene: TRIM32.
Retinal disorders v2.155 TRIM32 Ivone Leong Phenotypes for gene: TRIM32 were changed from Eye Disorders to Bardet-Biedl syndrome 11, OMIM:615988
Retinal disorders v2.154 TRIM32 Ivone Leong Publications for gene: TRIM32 were set to
Retinal disorders v2.153 TREX1 Ivone Leong commented on gene: TREX1: This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.153 TREX1 Ivone Leong Tag for-review tag was added to gene: TREX1.
Retinal disorders v2.153 TREX1 Ivone Leong Publications for gene: TREX1 were set to
Retinal disorders v2.152 TREX1 Ivone Leong Mode of inheritance for gene: TREX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.151 TREX1 Ivone Leong Phenotypes for gene: TREX1 were changed from to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Retinal disorders v2.150 TRAF3IP1 Ivone Leong Classified gene: TRAF3IP1 as Amber List (moderate evidence)
Retinal disorders v2.150 TRAF3IP1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.150 TRAF3IP1 Ivone Leong Gene: traf3ip1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.149 TRAF3IP1 Ivone Leong Tag for-review tag was added to gene: TRAF3IP1.
Retinal disorders v2.149 TRAF3IP1 Ivone Leong Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9, MIM#616629 to Senior-Loken syndrome 9, OMIM:616629
Retinal disorders v2.148 TMEM231 Ivone Leong Classified gene: TMEM231 as Amber List (moderate evidence)
Retinal disorders v2.148 TMEM231 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.148 TMEM231 Ivone Leong Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.147 TMEM231 Ivone Leong Tag for-review tag was added to gene: TMEM231.
Retinal disorders v2.147 TMEM231 Ivone Leong Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 MIM#614970 to Joubert syndrome 20, OMIM:614970
Retinal disorders v2.146 TMEM216 Ivone Leong Classified gene: TMEM216 as Amber List (moderate evidence)
Retinal disorders v2.146 TMEM216 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.
Retinal disorders v2.146 TMEM216 Ivone Leong Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.145 TMEM216 Ivone Leong Tag for-review tag was added to gene: TMEM216.
Retinal disorders v2.145 TMEM216 Ivone Leong Phenotypes for gene: TMEM216 were changed from Eye Disorders to Joubert syndrome 2, OMIM:608091, MONDO:0011963; Meckel syndrome 2, OMIM:603194, MONDO:0011296
Retinal disorders v2.144 SSBP1 Ivone Leong Classified gene: SSBP1 as Amber List (moderate evidence)
Retinal disorders v2.144 SSBP1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be reviewed by the GMS specialist group to see whether the phenotype is appropriate to be included in this panel.

This gene is Green on the Optic neuropathy panel (Version 2.29).
Retinal disorders v2.144 SSBP1 Ivone Leong Gene: ssbp1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.143 SSBP1 Ivone Leong Tag for-review tag was added to gene: SSBP1.
Retinal disorders v2.143 SSBP1 Ivone Leong Phenotypes for gene: SSBP1 were changed from Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Retinal disorders v2.142 RIMS2 Ivone Leong Tag for-review tag was added to gene: RIMS2.
Retinal disorders v2.142 RIMS2 Ivone Leong Classified gene: RIMS2 as Amber List (moderate evidence)
Retinal disorders v2.142 RIMS2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.142 RIMS2 Ivone Leong Gene: rims2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.141 RIMS2 Ivone Leong Phenotypes for gene: RIMS2 were changed from Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 to Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970
Retinal disorders v2.140 RDH11 Ivone Leong Mode of inheritance for gene: RDH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.139 RDH11 Ivone Leong Phenotypes for gene: RDH11 were changed from to ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
Retinal disorders v2.138 RDH11 Ivone Leong Publications for gene: RDH11 were set to
Retinal disorders v2.137 PRDM13 Ivone Leong commented on gene: PRDM13: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Retinal disorders v2.137 PRDM13 Ivone Leong Tag for-review tag was added to gene: PRDM13.
Retinal disorders v2.137 PRDM13 Ivone Leong Mode of pathogenicity for gene: PRDM13 was changed from to Other
Retinal disorders v2.136 PRDM13 Ivone Leong Mode of inheritance for gene: PRDM13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.135 PRDM13 Ivone Leong Phenotypes for gene: PRDM13 were changed from to North Carolina macular dystrophy, MONDO:0007630
Retinal disorders v2.134 PRDM13 Ivone Leong Publications for gene: PRDM13 were set to
Retinal disorders v2.133 POMGNT1 Ivone Leong commented on gene: POMGNT1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.133 POMGNT1 Ivone Leong Tag for-review tag was added to gene: POMGNT1.
Retinal disorders v2.133 POMGNT1 Ivone Leong Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.132 POMGNT1 Ivone Leong Publications for gene: POMGNT1 were set to
Retinal disorders v2.131 POMGNT1 Ivone Leong Phenotypes for gene: POMGNT1 were changed from to Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929
Retinal disorders v2.130 ROM1 Ivone Leong Classified gene: ROM1 as Amber List (moderate evidence)
Retinal disorders v2.130 ROM1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is sufficient evidence to support a gene-disease association and it is recommended that this gene should be given Green status.
Retinal disorders v2.130 ROM1 Ivone Leong Gene: rom1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.129 ROM1 Ivone Leong Tag for-review tag was added to gene: ROM1.
Retinal disorders v2.129 ROM1 Ivone Leong Mode of inheritance for gene: ROM1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.128 PEX6 Ivone Leong Classified gene: PEX6 as Amber List (moderate evidence)
Retinal disorders v2.128 PEX6 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Retinal disorders v2.128 PEX6 Ivone Leong Gene: pex6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.127 PEX6 Ivone Leong Tag for-review tag was added to gene: PEX6.
Retinal disorders v2.127 PAX2 Ivone Leong commented on gene: PAX2: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.127 PAX2 Ivone Leong Tag for-review tag was added to gene: PAX2.
Retinal disorders v2.127 PAX2 Ivone Leong Publications for gene: PAX2 were set to
Retinal disorders v2.126 PAX2 Ivone Leong Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.125 PAX2 Ivone Leong Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352
Retinal disorders v2.124 NEUROD1 Ivone Leong commented on gene: NEUROD1: This gene is not associated with an eye phenotype in OMIM and with no phenotype in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.124 NEUROD1 Ivone Leong Tag for-review tag was added to gene: NEUROD1.
Retinal disorders v2.124 GDF6 Ivone Leong Classified gene: GDF6 as Amber List (moderate evidence)
Retinal disorders v2.124 GDF6 Ivone Leong Added comment: Comment on list classification: This gene has been promoted from Red to Amber. As there is not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Retinal disorders v2.124 GDF6 Ivone Leong Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.123 GDF6 Ivone Leong Mode of inheritance for gene: GDF6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.122 GDF6 Ivone Leong commented on gene: GDF6
Retinal disorders v2.122 GDF6 Ivone Leong Tag watchlist tag was added to gene: GDF6.
Retinal disorders v2.122 GDF6 Ivone Leong Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant, 118100; Leber congenital amaurosis 17; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4 to Klippel-Feil syndrome 1, autosomal dominant, 118100; Leber congenital amaurosis 17, 615360; Microphthalmia with coloboma 6, digenic, 613703; Microphthalmia, isolated 4, 613094
Retinal disorders v2.121 GDF6 Ivone Leong Publications for gene: GDF6 were set to PMID: 23307924
Retinal disorders v2.120 HK1 Ivone Leong commented on gene: HK1
Retinal disorders v2.120 HK1 Ivone Leong Tag for-review tag was added to gene: HK1.
Retinal disorders v2.120 HK1 Ivone Leong Publications for gene: HK1 were set to 25190649; 25316723
Retinal disorders v2.119 HK1 Ivone Leong Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79 617460 to Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320
Retinal disorders v2.118 NEUROD1 Ivone Leong Mode of inheritance for gene: NEUROD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.117 HARS Ivone Leong commented on gene: HARS
Retinal disorders v2.117 HARS Ivone Leong Tag for-review tag was added to gene: HARS.
Retinal disorders v2.117 HARS Ivone Leong Publications for gene: HARS were set to
Retinal disorders v2.116 CTSF Ivone Leong changed review comment from: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype.

While neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Because of this CTSF has been given a Red rating.; to: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype.

While neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Based on the phenotype, this gene has been given a Red rating as the phenotype does not fit this panel.
Retinal disorders v2.116 CTSF Ivone Leong Classified gene: CTSF as Red List (low evidence)
Retinal disorders v2.116 CTSF Ivone Leong Added comment: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype.

While neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Because of this CTSF has been given a Red rating.
Retinal disorders v2.116 CTSF Ivone Leong Gene: ctsf has been classified as Red List (Low Evidence).
Retinal disorders v2.115 CIB2 Ivone Leong commented on gene: CIB2
Retinal disorders v2.115 CIB2 Ivone Leong Tag for-review tag was added to gene: CIB2.
Retinal disorders v2.115 ROM1 Ivone Leong Phenotypes for gene: ROM1 were changed from Retinitis pigmentosa 7, digenic; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 7, digenic, 608133 to Retinitis pigmentosa 7, digenic, OMIM:608133
Retinal disorders v2.114 ROM1 Ivone Leong Publications for gene: ROM1 were set to 8595413; 32716032
Retinal disorders v2.113 PNPLA6 Ivone Leong commented on gene: PNPLA6: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.
Retinal disorders v2.113 PNPLA6 Ivone Leong Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.112 PNPLA6 Ivone Leong Tag for-review tag was added to gene: PNPLA6.
Retinal disorders v2.112 PNPLA6 Ivone Leong Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, OMIM:215470; Oliver-McFarlane syndrome, OMIM:275400; ?Laurence-Moon syndrome, OMIM:245800
Retinal disorders v2.111 PNPLA6 Ivone Leong Publications for gene: PNPLA6 were set to
Retinal disorders v2.110 TUBGCP6 Ivone Leong commented on gene: TUBGCP6: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Retinal disorders v2.110 TUBGCP6 Ivone Leong Added comment: Comment on publications: PMID: 31077665 extra case
Retinal disorders v2.110 TUBGCP6 Ivone Leong Publications for gene: TUBGCP6 were set to 22279524; 25344692
Retinal disorders v2.109 TUBGCP6 Ivone Leong Mode of inheritance for gene: TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.108 TUBGCP6 Ivone Leong Tag for-review tag was added to gene: TUBGCP6.
Retinal disorders v2.108 TUBGCP6 Ivone Leong Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270; microcephaly and chorioretinopathy 1, MONDO:0009624
Retinal disorders v2.107 TUBGCP6 Ivone Leong Publications for gene: TUBGCP6 were set to
Retinal disorders v2.106 PLK4 Ivone Leong commented on gene: PLK4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Retinal disorders v2.106 PLK4 Ivone Leong Tag for-review tag was added to gene: PLK4.
Retinal disorders v2.106 TMEM216 Ivone Leong Publications for gene: TMEM216 were set to
Retinal disorders v2.105 TMEM216 Ivone Leong Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.104 PLK4 Ivone Leong Mode of inheritance for gene: PLK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.103 PLK4 Ivone Leong Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516
Retinal disorders v2.102 PLK4 Ivone Leong Publications for gene: PLK4 were set to
Retinal disorders v2.101 PEX6 Ivone Leong Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, MIM# 616617 to Heimler syndrome 2, OMIM:616617, MONDO:0014709
Retinal disorders v2.100 P3H2 Ivone Leong changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.; to: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. The GMS specialist group should review whether the phenotype for this gene is relevant for inclusion in this panel.
Retinal disorders v2.100 P3H2 Ivone Leong Classified gene: P3H2 as Amber List (moderate evidence)
Retinal disorders v2.100 P3H2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.
Retinal disorders v2.100 P3H2 Ivone Leong Gene: p3h2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.99 P3H2 Ivone Leong Tag for-review tag was added to gene: P3H2.
Retinal disorders v2.99 P3H2 Ivone Leong Mode of inheritance for gene: P3H2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.98 P3H2 Ivone Leong Phenotypes for gene: P3H2 were changed from Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3 to Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670
Retinal disorders v2.97 P3H2 Ivone Leong Publications for gene: P3H2 were set to
Retinal disorders v2.96 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
Retinal disorders v2.95 NEUROD1 Ivone Leong Publications for gene: NEUROD1 were set to
Retinal disorders v2.94 MTTP Ivone Leong Classified gene: MTTP as Amber List (moderate evidence)
Retinal disorders v2.94 MTTP Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases listed in OMIM. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.94 MTTP Ivone Leong Gene: mttp has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.93 MTTP Ivone Leong Tag for-review tag was added to gene: MTTP.
Retinal disorders v2.93 MTTP Ivone Leong Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.92 MTTP Ivone Leong Phenotypes for gene: MTTP were changed from Eye Disorders to Abetalipoproteinemia, OMIM:200100, MONDO:0008692
Retinal disorders v2.91 MSTO1 Ivone Leong Classified gene: MSTO1 as Amber List (moderate evidence)
Retinal disorders v2.91 MSTO1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not in Gene2Phenotype. There are at least 7 unrelated cases who are biallelic for variants in this gene and 1 family of patients (4 affected) who are monoallelic for variants in this gene.

For patients who are biallelic, there are 3 cases that reported pigmentary retinopathy. 5 out of 7 cases had growth impairments. For patients who are monoallelic there are no ophthalmological findings and growth impairment was only reported for 1 affected individual.

As not all affected individuals with biallelic variants showed a retinal disorder this gene has been given an Amber rating. Whether there is enough evidence to support a gene-disease association and for this gene to be rated Green should be reviewed by the GMS specialist group.
Retinal disorders v2.91 MSTO1 Ivone Leong Gene: msto1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.90 MSTO1 Ivone Leong Tag for-review tag was added to gene: MSTO1.
Retinal disorders v2.90 MSTO1 Ivone Leong Publications for gene: MSTO1 were set to 29339779; 28544275
Retinal disorders v2.89 MSTO1 Ivone Leong Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia MIM#617675 to Myopathy, mitochondrial, and ataxia, OMIM:617675
Retinal disorders v2.88 MMACHC Ivone Leong Classified gene: MMACHC as Amber List (moderate evidence)
Retinal disorders v2.88 MMACHC Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 cases in the literature; therefore, there is enough evidence to support a gene-disease association. This gene has been rated Amber and should be given Green status at the next review.
Retinal disorders v2.88 MMACHC Ivone Leong Gene: mmachc has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.87 MMACHC Ivone Leong Tag for-review tag was added to gene: MMACHC.
Retinal disorders v2.87 MMACHC Ivone Leong Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 to Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
Retinal disorders v2.86 MMACHC Ivone Leong Publications for gene: MMACHC were set to 28481040
Retinal disorders v2.85 LAMA1 Ivone Leong changed review comment from: This gene is associated with an relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.; to: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.
Retinal disorders v2.85 LAMA1 Ivone Leong commented on gene: LAMA1: This gene is associated with an relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.
Retinal disorders v2.85 LAMA1 Ivone Leong Tag for-review tag was added to gene: LAMA1.
Retinal disorders v2.85 LAMA1 Ivone Leong Publications for gene: LAMA1 were set to 25105227
Retinal disorders v2.84 LAMA1 Ivone Leong Publications for gene: LAMA1 were set to
Retinal disorders v2.83 LAMA1 Ivone Leong Mode of inheritance for gene: LAMA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.82 LAMA1 Ivone Leong Phenotypes for gene: LAMA1 were changed from to Poretti-Boltshauser syndrome, OMIM:615960
Retinal disorders v2.81 IFT81 Ivone Leong Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485
Retinal disorders v2.80 IFT81 Ivone Leong Mode of inheritance for gene: IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.79 IFT81 Ivone Leong Publications for gene: IFT81 were set to
Retinal disorders v2.78 IFT74 Ivone Leong Classified gene: IFT74 as Amber List (moderate evidence)
Retinal disorders v2.78 IFT74 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review.
Retinal disorders v2.78 IFT74 Ivone Leong Gene: ift74 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.77 IFT74 Ivone Leong Tag for-review tag was added to gene: IFT74.
Retinal disorders v2.77 IFT74 Ivone Leong Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to ?Bardet-Biedl syndrome 20, OMIM:617119
Retinal disorders v2.76 IFT27 Ivone Leong Phenotypes for gene: IFT27 were changed from to ?Bardet-Biedl syndrome 19, OMIM:615996
Retinal disorders v2.75 IFT27 Ivone Leong Publications for gene: IFT27 were set to
Retinal disorders v2.74 IFT172 Ivone Leong commented on gene: IFT172: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough data to support a gene-disease association. This gene should be made Green at the next review (tagged with "for-review").

This gene is also Green on the following panels:
- Ophthalmological ciliopathies (Version 1.13)
- Skeletal ciliopathies (Version 1.4)
- Rare multisystem ciliopathy disorders (Version 1.130)
Retinal disorders v2.74 IFT172 Ivone Leong Tag for-review tag was added to gene: IFT172.
Retinal disorders v2.74 IFT172 Ivone Leong Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.73 IFT172 Ivone Leong Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618
Retinal disorders v2.72 IFT172 Ivone Leong Publications for gene: IFT172 were set to
Retinal disorders v2.71 GRN Ivone Leong Classified gene: GRN as Amber List (moderate evidence)
Retinal disorders v2.71 GRN Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be made Green at the next review.
Retinal disorders v2.71 GRN Ivone Leong Gene: grn has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.70 GRN Ivone Leong Tag for-review tag was added to gene: GRN.
Retinal disorders v2.70 GRN Ivone Leong Mode of inheritance for gene: GRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.69 GRN Ivone Leong Phenotypes for gene: GRN were changed from Eye Disorders to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; neuronal ceroid lipofuscinosis 1, MONDO:0013866
Retinal disorders v2.68 GRN Ivone Leong Publications for gene: GRN were set to
Retinal disorders v2.67 GNB3 Ivone Leong commented on gene: GNB3: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given Green status at the next review.
Retinal disorders v2.67 GNB3 Ivone Leong Tag for-review tag was added to gene: GNB3.
Retinal disorders v2.67 GNB3 Ivone Leong Mode of inheritance for gene: GNB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.66 GNB3 Ivone Leong Publications for gene: GNB3 were set to
Retinal disorders v2.65 GNB3 Ivone Leong Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872
Retinal disorders v2.64 CTSF Ivone Leong Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Retinal disorders v2.63 CTNNA1 Ivone Leong commented on gene: CTNNA1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 26691986a also describes a mouse model that mimics the human phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.63 CTNNA1 Ivone Leong Tag for-review tag was added to gene: CTNNA1.
Retinal disorders v2.63 CTNNA1 Ivone Leong Mode of inheritance for gene: CTNNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.62 CTNNA1 Ivone Leong Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, patterned, 2, OMIM:608970
Retinal disorders v2.61 CTNNA1 Ivone Leong Publications for gene: CTNNA1 were set to
Retinal disorders v2.60 CTC1 Ivone Leong Classified gene: CTC1 as Amber List (moderate evidence)
Retinal disorders v2.60 CTC1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.60 CTC1 Ivone Leong Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.59 CTC1 Ivone Leong Tag for-review tag was added to gene: CTC1.
Retinal disorders v2.59 CTC1 Ivone Leong Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Retinal disorders v2.58 CEP250 Ivone Leong commented on gene: CEP250: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Retinal disorders v2.58 CEP250 Ivone Leong Tag for-review tag was added to gene: CEP250.
Retinal disorders v2.58 CEP250 Ivone Leong Mode of inheritance for gene: CEP250 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.57 CEP250 Ivone Leong Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
Retinal disorders v2.56 CEP250 Ivone Leong Publications for gene: CEP250 were set to
Retinal disorders v2.55 ARL13B Ivone Leong Classified gene: ARL13B as Amber List (moderate evidence)
Retinal disorders v2.55 ARL13B Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be promoted to Green at the next review.
Retinal disorders v2.55 ARL13B Ivone Leong Gene: arl13b has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.54 ARL13B Ivone Leong Tag for-review tag was added to gene: ARL13B.
Retinal disorders v2.54 ARL13B Ivone Leong Phenotypes for gene: ARL13B were changed from Eye Disorders to Joubert syndrome 8, OMIM:612291, MONDO:0012855
Retinal disorders v2.53 ARL13B Ivone Leong Publications for gene: ARL13B were set to
Retinal disorders v2.52 AP3B2 Ivone Leong Classified gene: AP3B2 as Red List (low evidence)
Retinal disorders v2.52 AP3B2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with an eye phenotype in Gene2Phenotype but not in OMIM. PMID:27889060 describes 1 out of 8 families where individuals who have variants in this gene had retinitis pigmentosa and mild optic disc pallor. This gene is also Amber on the Optic neuropathy panel (Version 2.29).

Therefore, there is currently not enough evidence to support a gene-disease association, this gene has been given a Red rating.
Retinal disorders v2.52 AP3B2 Ivone Leong Gene: ap3b2 has been classified as Red List (Low Evidence).
Retinal disorders v2.51 AP3B2 Ivone Leong Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000
Retinal disorders v2.50 ALPK1 Ivone Leong Classified gene: ALPK1 as Amber List (moderate evidence)
Retinal disorders v2.50 ALPK1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating and should be promoted to Green at the next review.
Retinal disorders v2.50 ALPK1 Ivone Leong Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.49 ALPK1 Ivone Leong Tag for-review tag was added to gene: ALPK1.
Retinal disorders v2.49 ALPK1 Ivone Leong Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to ROSAH syndrome, OMIM:614979
Retinal disorders v2.48 CIB2 Ivone Leong Publications for gene: CIB2 were set to
Retinal disorders v2.47 CA4 Ivone Leong commented on gene: CA4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the external reviews and available evidence the rating of this gene should be re-reviewed by the GMS specialist group at the next review. Have tagged with "for-review".
Retinal disorders v2.47 CA4 Ivone Leong Tag for-review tag was added to gene: CA4.
Retinal disorders v2.47 CA4 Ivone Leong Publications for gene: CA4 were set to 15563508; 17652713; 15090652
Retinal disorders v2.46 CA4 Ivone Leong Phenotypes for gene: CA4 were changed from Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 17, 600852 to Retinitis pigmentosa 17, OMIM:600852, MONDO:0010945
Retinal disorders v2.45 AFG3L2 Ivone Leong commented on gene: AFG3L2: This gene is associated with a relevant phenotype in OMIM, but it is not associated with an eye phenotype in Gene2Phenotype. Based on the available information there is enough evidence to support a gene-disease association. This gene has been tagged with "for-review" and should be promoted to Green at the next review.
Retinal disorders v2.45 AFG3L2 Ivone Leong Tag for-review tag was added to gene: AFG3L2.
Retinal disorders v2.45 AFG3L2 Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.44 AFG3L2 Ivone Leong Publications for gene: AFG3L2 were set to
Retinal disorders v2.43 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from to Optic atrophy 12, OMIM:618977, MONDO:0033549
Retinal disorders v2.42 ACBD5 Ivone Leong Tag watchlist tag was added to gene: ACBD5.
Retinal disorders v2.42 ACBD5 Ivone Leong Classified gene: ACBD5 as Amber List (moderate evidence)
Retinal disorders v2.42 ACBD5 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. As there are only 2 reported cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Retinal disorders v2.42 ACBD5 Ivone Leong Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.41 ACBD5 Ivone Leong Added comment: Comment on publications: Previous Publications comment:
Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47 PMID: 23105016
Retinal disorders v2.41 ACBD5 Ivone Leong Publications for gene: ACBD5 were set to Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb; 23(2):236-47 PMID: 23105016
Retinal disorders v2.40 ACBD5 Ivone Leong Added comment: Comment on phenotypes: Previous Phenotypes comment: No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement
Retinal disorders v2.40 ACBD5 Ivone Leong Phenotypes for gene: ACBD5 were changed from No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement to Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026
Retinal disorders v2.39 ACBD5 Ivone Leong Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.38 GDF6 Mehdi Montazer reviewed gene: GDF6: Rating: AMBER; 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: https://doi.org/10.1038/s41431-020-0678-9; Phenotypes: kidney hypodysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.38 ABCC6 Ivone Leong edited their review of gene: ABCC6: Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and expert reviews, this gene should be promoted to Green at the next review.; Changed rating: GREEN
Retinal disorders v2.38 ABCC6 Ivone Leong Tag for-review tag was added to gene: ABCC6.
Retinal disorders v2.38 ABCC6 Ivone Leong Mode of inheritance for gene: ABCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.37 ABCC6 Ivone Leong Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; inherited pseudoxanthoma elasticum, MONDO:0100091
Retinal disorders v2.36 USP45 Ivone Leong Classified gene: USP45 as Amber List (moderate evidence)
Retinal disorders v2.36 USP45 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Retinal disorders v2.36 USP45 Ivone Leong Gene: usp45 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.35 USP45 Ivone Leong Tag for-review tag was added to gene: USP45.
Retinal disorders v2.35 USP45 Ivone Leong Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513 to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, OMIMM:618513
Retinal disorders v2.34 SLC6A6 Ivone Leong Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; Dilated cardiomyopathy to Early retinal degeneration; cardiomyopathy
Retinal disorders v2.33 SLC6A6 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. PMID: 29886034 did not look at the eyes of patients so therefore unsure if the affected individual with a variant in SLC6A6 has an eye phenotype.

Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Retinal disorders v2.33 SLC6A6 Ivone Leong Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Early retinal degeneration; Dilated cardiomyopathy
Retinal disorders v2.32 SLC6A6 Ivone Leong Classified gene: SLC6A6 as Amber List (moderate evidence)
Retinal disorders v2.32 SLC6A6 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Retinal disorders v2.32 SLC6A6 Ivone Leong Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.31 SLC6A6 Ivone Leong Tag for-review tag was added to gene: SLC6A6.
Retinal disorders v2.31 SLC6A6 Ivone Leong Added comment: Comment on publications: PMID: 17875433 slc6a6-/- mouse develop retinal degenerative disease.
Retinal disorders v2.31 SLC6A6 Ivone Leong Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Retinal disorders v2.30 AHR Ivone Leong commented on gene: AHR: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene will remain Amber.
Retinal disorders v2.30 AHR Ivone Leong Tag watchlist tag was added to gene: AHR.
Retinal disorders v2.30 AHR Ivone Leong Publications for gene: AHR were set to
Retinal disorders v2.29 AHR Ivone Leong Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345 to ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy
Retinal disorders v2.28 AHR Ivone Leong Phenotypes for gene: AHR were changed from to ?Retinitis pigmentosa 85, OMIM:618345
Retinal disorders v2.27 AHR Ivone Leong Mode of inheritance for gene: AHR was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.26 C8orf37 Ivone Leong Phenotypes for gene: C8orf37 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Retinal disorders v2.25 KIF3B Ivone Leong Classified gene: KIF3B as Amber List (moderate evidence)
Retinal disorders v2.25 KIF3B Ivone Leong Gene: kif3b has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.24 KIF3B Ivone Leong gene: KIF3B was added
gene: KIF3B was added to Retinal disorders. Sources: Expert list,Literature
watchlist tags were added to gene: KIF3B.
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: New gene added by Zornitza Stark (Australian Genomics) to the Ophthalmological ciliopathies (Version 1.10). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given an Amber rating.

"Two unrelated families with a ciliopathy phenotype including RP and some functional data. Sources: Literature
Zornitza Stark (Australian Genomics), 3 Jun 2020"
Sources: Expert list, Literature
Retinal disorders v2.23 SLC38A8 Eleanor Williams Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Retinal disorders v2.22 SLC38A8 Eleanor Williams Publications for gene: SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842
Retinal disorders v2.21 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: ; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.21 DRAM2 Arina Puzriakova Classified gene: DRAM2 as Amber List (moderate evidence)
Retinal disorders v2.21 DRAM2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Retinal disorders v2.21 DRAM2 Arina Puzriakova Gene: dram2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.20 DRAM2 Arina Puzriakova Tag for-review tag was added to gene: DRAM2.
Retinal disorders v2.20 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 18394578; 14409555
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700
Review for gene: ZFYVE26 was set to GREEN
gene: ZFYVE26 was marked as current diagnostic
Added comment: Retinal degeneration can be a feature of this condition.
Sources: Expert list
Retinal disorders v2.20 WDPCP Zornitza Stark changed review comment from: Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS. Note this gene has discordant ratings on multiple panels.; to: Four families reported, with different ciliopathy phenotypes including BBS, OFD and syndromic retinopathy.
Retinal disorders v2.20 WDPCP Zornitza Stark edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185
Retinal disorders v2.20 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 UNC119 Zornitza Stark 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
Retinal disorders v2.20 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22279524, 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 TUBGCP4 Zornitza Stark reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v2.20 TUBB4B Zornitza Stark gene: TUBB4B was added
gene: TUBB4B was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to 29198720
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to GREEN
gene: TUBB4B was marked as current diagnostic
Added comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth.
Sources: Expert list
Retinal disorders v2.20 TRNT1 Zornitza Stark changed review comment from: The disorders associated with this gene likely represent a spectrum. RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. RP/retinal dysfunction reported in more than 3 families, supportive functional data.
Retinal disorders v2.20 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26494905, 28390992, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17660820; Phenotypes: Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.20 TRAF3IP1 Zornitza Stark gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP1 were set to 26487268
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9, MIM#616629
Review for gene: TRAF3IP1 was set to GREEN
Added comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration.
Sources: Expert list
Retinal disorders v2.20 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 27449316
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970
Review for gene: TMEM231 was set to GREEN
Added comment: Three unrelated families reported with retinopathy as a feature of the condition.
Sources: Expert list
Retinal disorders v2.20 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 32687549, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 SSBP1 Zornitza Stark gene: SSBP1 was added
gene: SSBP1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.

Consider including here as well as the optic atrophy panel due to retinal features.
Sources: Expert list
Retinal disorders v2.20 RIMS2 Zornitza Stark gene: RIMS2 was added
gene: RIMS2 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Review for gene: RIMS2 was set to GREEN
gene: RIMS2 was marked as current diagnostic
Added comment: Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families.
Sources: Expert list
Retinal disorders v2.20 RDH11 Zornitza Stark reviewed gene: RDH11: Rating: RED; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 PRDM13 Zornitza Stark reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29258872, 28973654, 26507665, 30710461; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.20 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613; Phenotypes: Retinitis pigmentosa 76, MIM#617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 PNPLA6 Zornitza Stark reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24355708, 25033069; Phenotypes: Boucher-Neuhauser syndrome, MIM#215470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 PLK4 Zornitza Stark reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.20 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595
Phenotypes for gene: PEX6 were set to Heimler syndrome 2, MIM# 616617
Review for gene: PEX6 was set to GREEN
gene: PEX6 was marked as current diagnostic
Added comment: Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported.
Sources: Expert list
Retinal disorders v2.20 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM# 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.20 P3H2 Zornitza Stark reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v2.20 TINF2 Arina Puzriakova Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948
Retinal disorders v2.19 TINF2 Arina Puzriakova edited their review of gene: TINF2: Changed publications: 18252230, 21477109, 28095086, 28866069, 29749240, 30478948
Retinal disorders v2.19 TINF2 Arina Puzriakova Classified gene: TINF2 as Amber List (moderate evidence)
Retinal disorders v2.19 TINF2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.
Retinal disorders v2.19 TINF2 Arina Puzriakova Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.18 TINF2 Arina Puzriakova changed review comment from: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.
Sources: Literature; to: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.

Retinopathy can be the first presenting feature in patients with Revesz syndrome and so inclusion of TINF2 on this panel is likely to be of benefit.
Sources: Literature
Retinal disorders v2.18 TINF2 Arina Puzriakova gene: TINF2 was added
gene: TINF2 was added to Retinal disorders. Sources: Literature
for-review tags were added to gene: TINF2.
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948
Phenotypes for gene: TINF2 were set to Revesz syndrome, 268130
Review for gene: TINF2 was set to GREEN
Added comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.
Sources: Literature
Retinal disorders v2.17 NEUROD1 Zornitza Stark reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28544275
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants.
Sources: Expert list
Retinal disorders v2.17 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 28481040
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases.
Sources: Expert list
Retinal disorders v2.17 LAMA1 Zornitza Stark reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 28460050, 26275418, 27666822, 32783357; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 32144365
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to GREEN
gene: IFT74 was marked as current diagnostic
Added comment: Two families reported with BBS, supportive zebrafish model.
Sources: Expert list
Retinal disorders v2.17 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183, 26763875, 25443296; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v2.17 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
Retinal disorders v2.17 HK1 Zornitza Stark changed review comment from: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.; to: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.

However, also note PMID 30778173, where other mono-allelic variants have been linked to a neurodevelopmental disorder which includes visual impairment, and for this reason Green rating on this panel may still be appropriate.
Retinal disorders v2.17 HK1 Zornitza Stark edited their review of gene: HK1: Changed rating: GREEN; Changed publications: 25316723, 25190649, 31621442, 32814480, 30778173
Retinal disorders v2.17 HK1 Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316723, 25190649, 31621442, 32814480; Phenotypes: Retinitis pigmentosa 79, MIM# 617460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.17 HARS Zornitza Stark reviewed gene: HARS: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Usher syndrome type 3B, MIM# 614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 GRN Zornitza Stark reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31855245, 28404863, 30922528; Phenotypes: Ceroid lipofuscinosis, neuronal, 11, OMIM #614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 GNB3 Zornitza Stark reviewed gene: GNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27063057, 17065478; Phenotypes: Night blindness, congenital stationary, type 1H, MIM# 617024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362
Review for gene: CTSF was set to GREEN
Added comment: Retinal degeneration is a feature.
Sources: Expert list
Retinal disorders v2.17 CTNNA1 Zornitza Stark reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.17 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Review for gene: CTC1 was set to GREEN
gene: CTC1 was marked as current diagnostic
Added comment: Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert list
Retinal disorders v2.17 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 CEP250 Zornitza Stark reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 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
Retinal disorders v2.17 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 30573647, 25138100, 29255182; Phenotypes: Joubert syndrome 8 MIM#612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B2 were set to 27889060
Phenotypes for gene: AP3B2 were set to Early-onset epileptic encephalopathy with optic atrophy
Review for gene: AP3B2 was set to GREEN
Added comment: 8 different families reported with EE - poor vision reported in all, specifically optic pallor 4/6, and retinal pigment changes in 2/6.
Sources: Expert list
Retinal disorders v2.17 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 30967659; 31939038
Phenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Review for gene: ALPK1 was set to GREEN
gene: ALPK1 was marked as current diagnostic
Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met). Pancytopaenia and recurrent infections present in some.
Sources: Expert list
Retinal disorders v2.17 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Optic atrophy 12, MIM# 618977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.17 ACBD5 Zornitza Stark changed review comment from: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 27799409: 1 individual who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 23105016: 1 family retinal dystrophy.; to: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 27799409: 1 individual who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation

PMID: 23105016: 1 family with retinal dystrophy.
Retinal disorders v2.17 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.17 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; Current diagnostic: yes
Retinal disorders v2.17 PRPH2 Eleanor Williams commented on gene: PRPH2
Retinal disorders v2.17 ROM1 Eleanor Williams Publications for gene: ROM1 were set to
Retinal disorders v2.16 ROM1 Eleanor Williams changed review comment from: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But
reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.; to: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.
Retinal disorders v2.16 ROM1 Eleanor Williams reviewed gene: ROM1: Rating: ; Mode of pathogenicity: None; Publications: 32716032; Phenotypes: retinal degeneration; Mode of inheritance: None
Retinal disorders v2.16 AHR Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989, 31896775; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.16 IFT27 Arina Puzriakova Mode of inheritance for gene: IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.15 IFT27 Arina Puzriakova Classified gene: IFT27 as Amber List (moderate evidence)
Retinal disorders v2.15 IFT27 Arina Puzriakova Added comment: Comment on list classification: At least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.
Retinal disorders v2.15 IFT27 Arina Puzriakova Gene: ift27 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.14 IFT27 Arina Puzriakova Tag for-review tag was added to gene: IFT27.
Retinal disorders v2.14 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 29704304, 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.14 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.14 IMPG2 Eleanor Williams changed review comment from: PMID: 32242237 - Xu et al 2020 - created two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique. Impg2 ablation in mice recapitulated the retinitis pigmentosa phenotypes of patients, including an attenuated electroretinogram (ERG) response and the progressive degeneration of photoreceptors. The study looks at the effects of Impg2 KO in retinas in detail and provides novel models for mechanistic investigations and development of therapies.; to: Additional evidence for association with retinitis pigmentosa - PMID: 32242237 - Xu et al 2020 - created two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique. Impg2 ablation in mice recapitulated the retinitis pigmentosa phenotypes of patients, including an attenuated electroretinogram (ERG) response and the progressive degeneration of photoreceptors. The study looks at the effects of Impg2 KO in retinas in detail and provides novel models for mechanistic investigations and development of therapies.
Retinal disorders v2.14 IMPG2 Eleanor Williams reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.14 EVR3 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: EVR3.
Retinal disorders v2.14 DYNC2H1 Eleanor Williams gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.
Note this gene produces a dynein-2 protein that is found in cilia.
No publication relating to this work has been found in PubMed at this time.
Sources: Literature
Retinal disorders v2.13 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Retinal disorders v2.13 USP45 Ivone Leong Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513
Retinal disorders v2.12 DRAM2 Ivone Leong Classified gene: DRAM2 as Green List (high evidence)
Retinal disorders v2.12 DRAM2 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.
Retinal disorders v2.12 DRAM2 Ivone Leong Gene: dram2 has been classified as Green List (High Evidence).
Retinal disorders v2.11 DRAM2 Ivone Leong Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21, 616502; macular dystrophy; cone-dystrophy
Retinal disorders v2.10 DRAM2 Ivone Leong Publications for gene: DRAM2 were set to
Retinal disorders v2.9 DRAM2 Ivone Leong Mode of inheritance for gene: DRAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.8 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Retinal disorders. 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 Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Retinal disorders v2.8 USP45 Zornitza Stark gene: USP45 was added
gene: USP45 was added to Retinal disorders. 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; retinal dystrophy
Review for gene: USP45 was set to GREEN
gene: USP45 was marked as current diagnostic
Added comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies recapitulate retinal phenotype
Sources: Literature
Retinal disorders v2.8 ABCC6 Gavin Arno reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PSEUDOXANTHOMA ELASTICUM (PXE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.8 Sarah Leigh Panel version has been signed off
Retinal disorders v2.6 DRAM2 Andrew Webster reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 26720460, 31394102; Phenotypes: macular dystrophy, cone-dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.6 TUB Louise Daugherty commented on gene: TUB
Retinal disorders v2.6 TUB Louise Daugherty Tag watchlist was removed from gene: TUB.
Retinal disorders v2.6 ABCA4 Louise Daugherty Tag watchlist was removed from gene: ABCA4.
Retinal disorders v2.5 TUBGCP6 Ivone Leong reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TUBGCP4 Ivone Leong reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TTPA Ivone Leong reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TRNT1 Ivone Leong reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TREX1 Ivone Leong reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SPP2 Ivone Leong reviewed gene: SPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SAMD11 Ivone Leong reviewed gene: SAMD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RTN4IP1 Ivone Leong reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RDH11 Ivone Leong reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PRDM13 Ivone Leong reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POMGNT1 Ivone Leong reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POC5 Ivone Leong reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PNPLA6 Ivone Leong reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PLK4 Ivone Leong reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PGK1 Ivone Leong reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PAX2 Ivone Leong reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 OPN1SW Ivone Leong reviewed gene: OPN1SW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NBAS Ivone Leong reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TS2 Ivone Leong reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TP Ivone Leong reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TH Ivone Leong reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MIR204 Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MAPKAPK3 Ivone Leong reviewed gene: MAPKAPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 LAMA1 Ivone Leong reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 JAG1 Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT81 Ivone Leong reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT27 Ivone Leong reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT172 Ivone Leong reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 GNB3 Ivone Leong reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 EXOSC2 Ivone Leong reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ESPN Ivone Leong reviewed gene: ESPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ELOVL1 Ivone Leong reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DRAM2 Ivone Leong reviewed gene: DRAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DMD Ivone Leong reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CTNNA1 Ivone Leong reviewed gene: CTNNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLUAP1 Ivone Leong reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLCC1 Ivone Leong reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP250 Ivone Leong reviewed gene: CEP250: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP19 Ivone Leong reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CCT2 Ivone Leong reviewed gene: CCT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 C12orf65 Ivone Leong reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ATXN7 Ivone Leong reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ASRGL1 Ivone Leong reviewed gene: ASRGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARSG Ivone Leong reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARL3 Ivone Leong reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AHR Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ADIPOR1 Ivone Leong reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ABCC6 Ivone Leong reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.4 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v2.4 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Retinal disorders v2.3 TUBGCP6 Ivone Leong gene: TUBGCP6 was added
gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP6 was set to
Retinal disorders v2.3 TUBGCP4 Ivone Leong gene: TUBGCP4 was added
gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP4 was set to
Retinal disorders v2.3 TTPA Ivone Leong gene: TTPA was added
gene: TTPA was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TTPA was set to
Retinal disorders v2.3 TRNT1 Ivone Leong gene: TRNT1 was added
gene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TRNT1 was set to
Retinal disorders v2.3 TREX1 Ivone Leong gene: TREX1 was added
gene: TREX1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TREX1 was set to
Retinal disorders v2.3 SPP2 Ivone Leong gene: SPP2 was added
gene: SPP2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SPP2 was set to
Retinal disorders v2.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to
Retinal disorders v2.3 SAMD11 Ivone Leong gene: SAMD11 was added
gene: SAMD11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SAMD11 was set to
Retinal disorders v2.3 RTN4IP1 Ivone Leong gene: RTN4IP1 was added
gene: RTN4IP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RTN4IP1 was set to
Retinal disorders v2.3 REEP6 Ivone Leong Source Expert Review Amber was added to REEP6.
Source RetNet was added to REEP6.
Source NHS GMS was added to REEP6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v2.3 RDH11 Ivone Leong gene: RDH11 was added
gene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RDH11 was set to
Retinal disorders v2.3 PRDM13 Ivone Leong gene: PRDM13 was added
gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PRDM13 was set to
Retinal disorders v2.3 POMGNT1 Ivone Leong gene: POMGNT1 was added
gene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POMGNT1 was set to
Retinal disorders v2.3 POC5 Ivone Leong gene: POC5 was added
gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POC5 was set to
Retinal disorders v2.3 PNPLA6 Ivone Leong gene: PNPLA6 was added
gene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to
Retinal disorders v2.3 PLK4 Ivone Leong gene: PLK4 was added
gene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PLK4 was set to
Retinal disorders v2.3 PGK1 Ivone Leong gene: PGK1 was added
gene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PGK1 was set to
Retinal disorders v2.3 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PAX2 was set to
Retinal disorders v2.3 OPN1SW Ivone Leong gene: OPN1SW was added
gene: OPN1SW was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: OPN1SW was set to
Retinal disorders v2.3 NEUROD1 Ivone Leong gene: NEUROD1 was added
gene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to
Retinal disorders v2.3 NBAS Ivone Leong gene: NBAS was added
gene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NBAS was set to
Retinal disorders v2.3 MT-TS2 Ivone Leong gene: MT-TS2 was added
gene: MT-TS2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TP Ivone Leong gene: MT-TP was added
gene: MT-TP was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TH Ivone Leong gene: MT-TH was added
gene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Retinal disorders v2.3 MIR204 Ivone Leong gene: MIR204 was added
gene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MIR204 was set to
Retinal disorders v2.3 MAPKAPK3 Ivone Leong gene: MAPKAPK3 was added
gene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MAPKAPK3 was set to
Retinal disorders v2.3 LAMA1 Ivone Leong gene: LAMA1 was added
gene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: LAMA1 was set to
Retinal disorders v2.3 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: JAG1 was set to
Retinal disorders v2.3 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT81 was set to
Retinal disorders v2.3 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT27 was set to
Retinal disorders v2.3 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT172 was set to
Retinal disorders v2.3 GNB3 Ivone Leong gene: GNB3 was added
gene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: GNB3 was set to
Retinal disorders v2.3 EXOSC2 Ivone Leong gene: EXOSC2 was added
gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: EXOSC2 was set to
Retinal disorders v2.3 ESPN Ivone Leong gene: ESPN was added
gene: ESPN was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ESPN was set to
Retinal disorders v2.3 ELOVL1 Ivone Leong gene: ELOVL1 was added
gene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ELOVL1 was set to
Retinal disorders v2.3 DRAM2 Ivone Leong gene: DRAM2 was added
gene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DRAM2 was set to
Retinal disorders v2.3 DMD Ivone Leong gene: DMD was added
gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DMD was set to
Retinal disorders v2.3 CTNNA1 Ivone Leong gene: CTNNA1 was added
gene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CTNNA1 was set to
Retinal disorders v2.3 CLUAP1 Ivone Leong gene: CLUAP1 was added
gene: CLUAP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLUAP1 was set to
Retinal disorders v2.3 CLCC1 Ivone Leong gene: CLCC1 was added
gene: CLCC1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLCC1 was set to
Retinal disorders v2.3 CEP250 Ivone Leong gene: CEP250 was added
gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP250 was set to
Retinal disorders v2.3 CEP19 Ivone Leong gene: CEP19 was added
gene: CEP19 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP19 was set to
Retinal disorders v2.3 CCT2 Ivone Leong gene: CCT2 was added
gene: CCT2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CCT2 was set to
Retinal disorders v2.3 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: C12orf65 was set to
Retinal disorders v2.3 ATXN7 Ivone Leong gene: ATXN7 was added
gene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ATXN7 was set to
Retinal disorders v2.3 ASRGL1 Ivone Leong gene: ASRGL1 was added
gene: ASRGL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ASRGL1 was set to
Retinal disorders v2.3 ARSG Ivone Leong gene: ARSG was added
gene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARSG was set to
Retinal disorders v2.3 ARL3 Ivone Leong gene: ARL3 was added
gene: ARL3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARL3 was set to
Retinal disorders v2.3 AHR Ivone Leong gene: AHR was added
gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AHR was set to
Retinal disorders v2.3 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to
Retinal disorders v2.3 ADIPOR1 Ivone Leong gene: ADIPOR1 was added
gene: ADIPOR1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ADIPOR1 was set to
Retinal disorders v2.3 ABCC6 Ivone Leong gene: ABCC6 was added
gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ABCC6 was set to
Retinal disorders v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Retinal disorders v2.0 Ivone Leong promoted panel to version 2.0
Retinal disorders v1.228 RDH12 Ivone Leong Added comment: Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes.
Retinal disorders v1.228 RDH12 Ivone Leong Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.227 RDH12 Ivone Leong Publications for gene: RDH12 were set to
Retinal disorders v1.226 NMNAT1 Ivone Leong Publications for gene: NMNAT1 were set to
Retinal disorders v1.225 CSPP1 Ivone Leong Phenotypes for gene: CSPP1 were changed from Genetic Retinal Degeneration Conditions; Joubert syndrome 21 to Genetic Retinal Degeneration Conditions; Joubert syndrome 21,615636
Retinal disorders v1.224 COL18A1 Ivone Leong Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750
Retinal disorders v1.223 CNGA3 Ivone Leong Phenotypes for gene: CNGA3 were changed from Achromatopsia; Achromatopsia-2; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia; Achromatopsia-2, 216900; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
Retinal disorders v1.222 CLRN1 Ivone Leong Phenotypes for gene: CLRN1 were changed from Eye Disorders; ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa to Eye Disorders; ?Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180
Retinal disorders v1.221 CEP290 Ivone Leong Publications for gene: CEP290 were set to
Retinal disorders v1.220 CDHR1 Ivone Leong Phenotypes for gene: CDHR1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660 to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660; Retinitis pigmentosa 65, 613660
Retinal disorders v1.219 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; Eye Disorders to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; Eye Disorders
Retinal disorders v1.218 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 9, 615986
Retinal disorders v1.217 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 7, 615984
Retinal disorders v1.216 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Eye Disorders; Bardet-Biedl syndrome 5 to Eye Disorders; Bardet-Biedl syndrome 5, 615983
Retinal disorders v1.215 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Eye Disorders; Bardet-Biedl syndrome 4 to Eye Disorders; Bardet-Biedl syndrome 4, 615982
Retinal disorders v1.214 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Eye Disorders; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 to Eye Disorders; Bardet-Biedl syndrome 2, 615981; Retinitis pigmentosa 74, 616562
Retinal disorders v1.213 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from Eye Disorders; Bardet-Biedl syndrome 12 to Eye Disorders; Bardet-Biedl syndrome 12, 615989
Retinal disorders v1.212 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa to Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900
Retinal disorders v1.211 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from Eye Disorders; Bardet-Biedl syndrome 10 to Eye Disorders; Bardet-Biedl syndrome 10, 615987
Retinal disorders v1.210 ATOH7 Ivone Leong Phenotypes for gene: ATOH7 were changed from Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus to Persistent hyperplastic primary vitreous, autosomal recessive, 221900; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Retinal disorders v1.209 ATF6 Ivone Leong Phenotypes for gene: ATF6 were changed from Achromatopsia 7 to Achromatopsia 7, 616517
Retinal disorders v1.208 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800
Retinal disorders v1.207 AHI1 Ivone Leong Phenotypes for gene: AHI1 were changed from Eye Disorders; Joubert syndrome 17 to Eye Disorders; Joubert syndrome 3, 608629
Retinal disorders v1.206 AGBL5 Ivone Leong Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa; Retinitis pigmentosa 75 617023 to Retinitis pigmentosa 75, 617023
Retinal disorders v1.205 ADAMTS18 Ivone Leong Phenotypes for gene: ADAMTS18 were changed from Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus to Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Retinal disorders v1.204 ADGRV1 Ivone Leong Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C; Eye Disorders to Usher syndrome, type 2C, 605472; Eye Disorders; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Retinal disorders v1.203 KIZ Ivone Leong Classified gene: KIZ as Green List (high evidence)
Retinal disorders v1.203 KIZ Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Mohammed Abdallah (Divsion of Human Genetics, university of Cape Town). The gene was previously classified as non-coding because of problems with Ensembl grch37 release; however, that has been fixed now and it is an actual gene.
Retinal disorders v1.203 KIZ Ivone Leong Gene: kiz has been classified as Green List (High Evidence).
Retinal disorders v1.202 KIZ Ivone Leong Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, 615780; HP:0000556; HP:0000510
Retinal disorders v1.201 KIZ Ivone Leong Mode of inheritance for gene: KIZ was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.200 KIZ Ivone Leong Publications for gene: KIZ were set to
Retinal disorders v1.199 KIZ Mohammed Abdallah changed review comment from: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, but by consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we could see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.; to: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, However, when consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we can clearly see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.
Retinal disorders v1.199 KIZ Mohammed Abdallah reviewed gene: KIZ: 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: PMID ( 31556760, 29057815, 28837078, 24680887); Phenotypes: Phenotypes (HP:0000556, HP:0000510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.199 IKBKG Catherine Snow Added comment: Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIM
Retinal disorders v1.199 IKBKG Catherine Snow Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.198 IKBKG Catherine Snow Added comment: Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSH
Retinal disorders v1.198 IKBKG Catherine Snow Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Retinal disorders v1.197 IKBKG Catherine Snow Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Retinal disorders v1.196 IKBKG Catherine Snow Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.195 IKBKG Catherine Snow Classified gene: IKBKG as Green List (high evidence)
Retinal disorders v1.195 IKBKG Catherine Snow Gene: ikbkg has been classified as Green List (High Evidence).
Retinal disorders v1.194 IKBKG Catherine Snow reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.194 AIRE Catherine Snow Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300
Retinal disorders v1.193 AIRE Catherine Snow Mode of inheritance for gene: AIRE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.192 AIRE Catherine Snow Classified gene: AIRE as Green List (high evidence)
Retinal disorders v1.192 AIRE Catherine Snow Gene: aire has been classified as Green List (High Evidence).
Retinal disorders v1.191 AIRE Catherine Snow reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.191 TPP1 Catherine Snow Mode of inheritance for gene: TPP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.190 TPP1 Catherine Snow Phenotypes for gene: TPP1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 2, 204500
Retinal disorders v1.189 TPP1 Catherine Snow Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.188 TPP1 Catherine Snow Classified gene: TPP1 as Green List (high evidence)
Retinal disorders v1.188 TPP1 Catherine Snow Gene: tpp1 has been classified as Green List (High Evidence).
Retinal disorders v1.187 TPP1 Catherine Snow reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.187 TIMM8A Catherine Snow Phenotypes for gene: TIMM8A were changed from Eye Disorders to Eye Disorders; Mohr-Tranebjaerg syndrome, 304700
Retinal disorders v1.186 TIMM8A Catherine Snow Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.185 TIMM8A Catherine Snow Classified gene: TIMM8A as Green List (high evidence)
Retinal disorders v1.185 TIMM8A Catherine Snow Gene: timm8a has been classified as Green List (High Evidence).
Retinal disorders v1.184 TIMM8A Catherine Snow reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.184 PPT1 Catherine Snow Phenotypes for gene: PPT1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 1, 256730
Retinal disorders v1.183 PPT1 Catherine Snow Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.182 PPT1 Catherine Snow Classified gene: PPT1 as Green List (high evidence)
Retinal disorders v1.182 PPT1 Catherine Snow Gene: ppt1 has been classified as Green List (High Evidence).
Retinal disorders v1.181 PPT1 Catherine Snow reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.181 HCCS Catherine Snow Phenotypes for gene: HCCS were changed from Eye Disorders to Eye Disorders; Linear skin defects with multiple congenital anomalies 1, 309801
Retinal disorders v1.180 HCCS Catherine Snow Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.179 HCCS Catherine Snow Classified gene: HCCS as Green List (high evidence)
Retinal disorders v1.179 HCCS Catherine Snow Gene: hccs has been classified as Green List (High Evidence).
Retinal disorders v1.178 HCCS Catherine Snow reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v1.178 CTSD Catherine Snow Phenotypes for gene: CTSD were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 10, 610127
Retinal disorders v1.177 CTSD Catherine Snow Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.176 CTSD Catherine Snow Classified gene: CTSD as Green List (high evidence)
Retinal disorders v1.176 CTSD Catherine Snow Gene: ctsd has been classified as Green List (High Evidence).
Retinal disorders v1.175 COL18A1 Catherine Snow changed review comment from: COL18A1 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: COL18A1 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN5 Catherine Snow changed review comment from: CLN5 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN5 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN6 Catherine Snow changed review comment from: CLN6 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN6 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CLN8 Catherine Snow changed review comment from: CLN8 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN8 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CTSD Catherine Snow changed review comment from: CTSD rated as Green and with a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CTSD rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Retinal disorders v1.175 CTSD Catherine Snow reviewed gene: CTSD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.175 COL18A1 Catherine Snow Classified gene: COL18A1 as Green List (high evidence)
Retinal disorders v1.175 COL18A1 Catherine Snow Gene: col18a1 has been classified as Green List (High Evidence).
Retinal disorders v1.174 COL18A1 Catherine Snow reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.174 CLN8 Catherine Snow Phenotypes for gene: CLN8 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 8, 600143
Retinal disorders v1.173 CLN8 Catherine Snow Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.172 CLN8 Catherine Snow Classified gene: CLN8 as Green List (high evidence)
Retinal disorders v1.172 CLN8 Catherine Snow Gene: cln8 has been classified as Green List (High Evidence).
Retinal disorders v1.171 CLN8 Catherine Snow reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.171 CLN6 Catherine Snow Phenotypes for gene: CLN6 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 6 601780
Retinal disorders v1.170 CLN6 Catherine Snow Mode of inheritance for gene: CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.169 CLN6 Catherine Snow Classified gene: CLN6 as Green List (high evidence)
Retinal disorders v1.169 CLN6 Catherine Snow Gene: cln6 has been classified as Green List (High Evidence).
Retinal disorders v1.168 CLN6 Catherine Snow reviewed gene: CLN6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.168 CLN5 Catherine Snow Classified gene: CLN5 as Green List (high evidence)
Retinal disorders v1.168 CLN5 Catherine Snow Gene: cln5 has been classified as Green List (High Evidence).
Retinal disorders v1.167 CLN5 Catherine Snow Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.166 CLN5 Catherine Snow Phenotypes for gene: CLN5 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731
Retinal disorders v1.165 CLN5 Catherine Snow reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.165 MVK Ivone Leong Classified gene: MVK as Amber List (moderate evidence)
Retinal disorders v1.165 MVK Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviewer. MVK is not associated with an eye phenotype in OMIM or Gene2Phenotype.
Retinal disorders v1.165 MVK Ivone Leong Gene: mvk has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.164 MVK Ivone Leong Publications for gene: MVK were set to 24084495; 12563048
Retinal disorders v1.163 MVK Ivone Leong Publications for gene: MVK were set to
Retinal disorders v1.162 MVK Ivone Leong Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria to Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP
Retinal disorders v1.161 MVK Tom Cullup reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: Non-syndromic RP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.161 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Retinal disorders v1.161 HARS Louise Daugherty commented on gene: HARS
Retinal disorders v1.161 OPN1MW Ivone Leong Classified gene: OPN1MW as Green List (high evidence)
Retinal disorders v1.161 OPN1MW Ivone Leong Added comment: Comment on list classification: Promoted to green based on expert review by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Retinal disorders v1.161 OPN1MW Ivone Leong Gene: opn1mw has been classified as Green List (High Evidence).
Retinal disorders v1.160 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 NR2F1 Ivone Leong reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 RGR Ivone Leong reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 CA4 Ivone Leong reviewed gene: CA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Ivone Leong reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.159 GNPTAB Simon Ramsden reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIRE Robert Henderson reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IKBKG Robert Henderson reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF513 Gavin Arno reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WT1 Gavin Arno reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WFS1 Gavin Arno reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WASF3 Gavin Arno reviewed gene: WASF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VSX2 Gavin Arno reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VAX1 Gavin Arno reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UNC119 Gavin Arno reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UBAP1L Gavin Arno reviewed gene: UBAP1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYRP1 Gavin Arno reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYR Gavin Arno reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC21B Gavin Arno reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TPP1 Gavin Arno reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM67 Gavin Arno reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM216 Gavin Arno reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM126A Gavin Arno reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMM8A Gavin Arno reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEX28 Gavin Arno reviewed gene: TEX28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEAD1 Gavin Arno reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN3 Gavin Arno reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN2 Gavin Arno reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN1 Gavin Arno reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 STRA6 Gavin Arno reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPG7 Gavin Arno reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SOX2 Gavin Arno reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SMOC1 Gavin Arno reviewed gene: SMOC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC7A14 Gavin Arno reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC45A2 Gavin Arno reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC37A3 Gavin Arno reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A5 Gavin Arno reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ROM1 Gavin Arno reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RIMS1 Gavin Arno reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9BP Gavin Arno reviewed gene: RGS9BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RB1 Gavin Arno reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRTFDC1 Gavin Arno reviewed gene: PRTFDC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PPT1 Gavin Arno reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POMZP3 Gavin Arno reviewed gene: POMZP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PODNL1 Gavin Arno reviewed gene: PODNL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLD4 Gavin Arno reviewed gene: PLD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX3 Gavin Arno reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX2 Gavin Arno reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITPNM3 Gavin Arno reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDZD7 Gavin Arno reviewed gene: PDZD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6H Gavin Arno reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDAP1 Gavin Arno reviewed gene: PDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Gavin Arno reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 P3H2 Gavin Arno reviewed gene: P3H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OR2M7 Gavin Arno reviewed gene: OR2M7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1MW Gavin Arno reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1LW Gavin Arno reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA3 Gavin Arno reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA1 Gavin Arno reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OCA2 Gavin Arno reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NUMB Gavin Arno reviewed gene: NUMB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2F1 Gavin Arno reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NEK2 Gavin Arno reviewed gene: NEK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NAALADL1 Gavin Arno reviewed gene: NAALADL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYOC Gavin Arno reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MVK Gavin Arno reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MTTP Gavin Arno reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-TL1 Gavin Arno reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND6 Gavin Arno reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND4 Gavin Arno reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND1 Gavin Arno reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ATP6 Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFN2 Gavin Arno reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRMDA Gavin Arno reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIZ Gavin Arno reviewed gene: KIZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF7 Gavin Arno reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCTD7 Gavin Arno reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITM2B Gavin Arno reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITIH2 Gavin Arno reviewed gene: ITIH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IRX5 Gavin Arno reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INVS Gavin Arno reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HTRA1 Gavin Arno reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMCN1 Gavin Arno reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HCCS Gavin Arno reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRN Gavin Arno reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRIP1 Gavin Arno reviewed gene: GRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GP1BA Gavin Arno reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GDF6 Gavin Arno reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FUT5 Gavin Arno reviewed gene: FUT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FSCN2 Gavin Arno reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM2 Gavin Arno reviewed gene: FREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM1 Gavin Arno reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FRAS1 Gavin Arno reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXI2 Gavin Arno reviewed gene: FOXI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXE3 Gavin Arno reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXC1 Gavin Arno reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FBLN5 Gavin Arno reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM71A Gavin Arno reviewed gene: FAM71A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM57B Gavin Arno reviewed gene: FAM57B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EMC1 Gavin Arno reviewed gene: EMC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DTHD1 Gavin Arno reviewed gene: DTHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHX38 Gavin Arno reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP27A1 Gavin Arno reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP1B1 Gavin Arno reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CUBN Gavin Arno reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTSD Gavin Arno reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CROCC Gavin Arno reviewed gene: CROCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A2 Gavin Arno reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A1 Gavin Arno reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL2A1 Gavin Arno reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL18A1 Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A2 Gavin Arno reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A1 Gavin Arno reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN8 Gavin Arno reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN6 Gavin Arno reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN5 Gavin Arno reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFB Gavin Arno reviewed gene: CFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP41 Gavin Arno reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CCZ1B Gavin Arno reviewed gene: CCZ1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C5orf42 Gavin Arno reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C3 Gavin Arno reviewed gene: C3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2 Gavin Arno reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BMP4 Gavin Arno reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BCOR Gavin Arno reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBIP1 Gavin Arno reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 B3GLCT Gavin Arno reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATP13A2 Gavin Arno reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARMS2 Gavin Arno reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL13B Gavin Arno reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AMN Gavin Arno reviewed gene: AMN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRA3 Gavin Arno reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACBD5 Gavin Arno reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HK1 Gavin Arno reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP2R1 Gavin Arno reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SEMA4A Gavin Arno commented on gene: SEMA4A: p.Arg713Gln is too common to cause adCORD. The other missense vriants reported in the paper are rare, although the gene has never been convincingly validated - remove?
Retinal disorders v1.159 RP1L1 Gavin Arno reviewed gene: RP1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 RGR Gavin Arno reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABCA4 Gavin Arno reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 CA4 Gavin Arno reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SRD5A3 Robert Henderson reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CWC27 Simon Ramsden reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTLL5 Gavin Arno reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RCBTB1 Gavin Arno reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POC1B Gavin Arno reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFSD8 Gavin Arno reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP2 Gavin Arno reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIAA1549 Gavin Arno reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA2D4 Gavin Arno reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFH Gavin Arno reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF423 Gavin Arno reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF408 Gavin Arno reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDR19 Gavin Arno reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDPCP Gavin Arno reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VPS13B Gavin Arno reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VCAN Gavin Arno reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH2A Gavin Arno reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1G Gavin Arno reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1C Gavin Arno reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TULP1 Gavin Arno reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TUB Gavin Arno reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC8 Gavin Arno reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TSPAN12 Gavin Arno reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRPM1 Gavin Arno reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRIM32 Gavin Arno reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TOPORS Gavin Arno reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM237 Gavin Arno reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMP3 Gavin Arno reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPATA7 Gavin Arno reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SNRNP200 Gavin Arno reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC38A8 Gavin Arno reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A1 Gavin Arno reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SDCCAG8 Gavin Arno reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SCAPER Gavin Arno reviewed gene: SCAPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SAG Gavin Arno reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RS1 Gavin Arno reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1L Gavin Arno reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1 Gavin Arno reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGR Gavin Arno reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPE65 Gavin Arno reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP9 Gavin Arno reviewed gene: RP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP2 Gavin Arno reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP1 Gavin Arno reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RLBP1 Gavin Arno reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RHO Gavin Arno reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9 Gavin Arno reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH5 Gavin Arno reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH12 Gavin Arno reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RD3 Gavin Arno reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP4 Gavin Arno reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP3 Gavin Arno reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAX2 Gavin Arno reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAB28 Gavin Arno reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPS1 Gavin Arno reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPH2 Gavin Arno reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF8 Gavin Arno reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF6 Gavin Arno reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF4 Gavin Arno reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF31 Gavin Arno reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF3 Gavin Arno reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PROM1 Gavin Arno reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRCD Gavin Arno reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLA2G5 Gavin Arno reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PHYH Gavin Arno reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX7 Gavin Arno reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX2 Gavin Arno reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX1 Gavin Arno reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6G Gavin Arno reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6C Gavin Arno reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6B Gavin Arno reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6A Gavin Arno reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCYT1A Gavin Arno reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCDH15 Gavin Arno reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PANK2 Gavin Arno reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OTX2 Gavin Arno reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OFD1 Gavin Arno reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OAT Gavin Arno reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NYX Gavin Arno reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NRL Gavin Arno reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2E3 Gavin Arno reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP4 Gavin Arno reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP3 Gavin Arno reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP1 Gavin Arno reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NMNAT1 Gavin Arno reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NDP Gavin Arno reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYO7A Gavin Arno reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKS1 Gavin Arno reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKKS Gavin Arno reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFRP Gavin Arno reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MERTK Gavin Arno reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MAK Gavin Arno reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LZTFL1 Gavin Arno reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP5 Gavin Arno reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRIT3 Gavin Arno reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRAT Gavin Arno reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LCA5 Gavin Arno reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KLHL7 Gavin Arno reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF11 Gavin Arno reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNV2 Gavin Arno reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNJ13 Gavin Arno reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IQCB1 Gavin Arno reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INPP5E Gavin Arno reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG2 Gavin Arno reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG1 Gavin Arno reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPDH1 Gavin Arno reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IFT140 Gavin Arno reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IDH3B Gavin Arno reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMX1 Gavin Arno reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HGSNAT Gavin Arno reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HARS Gavin Arno reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCY2D Gavin Arno reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1B Gavin Arno reviewed gene: GUCA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1A Gavin Arno reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRM6 Gavin Arno reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRK1 Gavin Arno reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR179 Gavin Arno reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR143 Gavin Arno reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNPTG Gavin Arno reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT2 Gavin Arno reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT1 Gavin Arno reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FZD4 Gavin Arno reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FLVCR1 Gavin Arno reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM161A Gavin Arno reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EYS Gavin Arno reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC8 Gavin Arno reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC6 Gavin Arno reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ELOVL4 Gavin Arno reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EFEMP1 Gavin Arno reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHDDS Gavin Arno reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP4V2 Gavin Arno reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTNNB1 Gavin Arno reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CSPP1 Gavin Arno reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRX Gavin Arno reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRB1 Gavin Arno reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL4A1 Gavin Arno reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNNM4 Gavin Arno reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB3 Gavin Arno reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB1 Gavin Arno reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA3 Gavin Arno reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA1 Gavin Arno reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLRN1 Gavin Arno reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN3 Gavin Arno reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CIB2 Gavin Arno reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CHM Gavin Arno reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CERKL Gavin Arno reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP78 Gavin Arno reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP290 Gavin Arno reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP164 Gavin Arno reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDHR1 Gavin Arno reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH3 Gavin Arno reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH23 Gavin Arno reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CC2D2A Gavin Arno reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CAPN5 Gavin Arno reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA1F Gavin Arno reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CABP4 Gavin Arno reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C8orf37 Gavin Arno reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2orf71 Gavin Arno reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C21orf2 Gavin Arno reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C1QTNF5 Gavin Arno reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BEST1 Gavin Arno reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS9 Gavin Arno reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS7 Gavin Arno reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS5 Gavin Arno reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS4 Gavin Arno reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS2 Gavin Arno reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS12 Gavin Arno reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS10 Gavin Arno reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS1 Gavin Arno reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATOH7 Gavin Arno reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATF6 Gavin Arno reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL6 Gavin Arno reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL2BP Gavin Arno reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARHGEF18 Gavin Arno reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ALMS1 Gavin Arno reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIPL1 Gavin Arno reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AHI1 Gavin Arno reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AGBL5 Gavin Arno reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRV1 Gavin Arno reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAMTS18 Gavin Arno reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAM9 Gavin Arno reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACO2 Gavin Arno reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABHD12 Gavin Arno reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WHRN Gavin Arno reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.158 GNPTAB Ivone Leong gene: GNPTAB was added
gene: GNPTAB was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: GNPTAB was set to
Retinal disorders v1.158 AIRE Ivone Leong gene: AIRE was added
gene: AIRE was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: AIRE was set to
Retinal disorders v1.158 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: IKBKG was set to
Retinal disorders v1.158 SEMA4A Ivone Leong Source Expert Review Amber was added to SEMA4A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 RGR Ivone Leong Source Expert Review Amber was added to RGR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 CA4 Ivone Leong Source Expert Review Amber was added to CA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.157 RP1L1 Ivone Leong Added comment: Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.
Retinal disorders v1.157 RP1L1 Ivone Leong Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.156 OPN1MW Ivone Leong Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.155 OPN1MW Ivone Leong Mode of inheritance for gene: OPN1MW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.154 OPN1LW Ivone Leong Publications for gene: OPN1LW were set to
Retinal disorders v1.153 OPN1LW Ivone Leong Classified gene: OPN1LW as Green List (high evidence)
Retinal disorders v1.153 OPN1LW Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases reported on OMIM; therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.153 OPN1LW Ivone Leong Gene: opn1lw has been classified as Green List (High Evidence).
Retinal disorders v1.152 OPN1LW Ivone Leong Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.151 OPN1LW Ivone Leong Mode of inheritance for gene: OPN1LW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.150 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.149 PDE6H Ivone Leong edited their review of gene: PDE6H: Added comment: PMID: 22901948 reported on 3 patients from 2 unrelated families (Dutch and Belgium) who have incomplete achromatopsia who also have the same variant in PDE6H (missense variant the causes a premature termination). Haplotype analysis for this region suggested that the variant may be from a founder effect.

PMID: 25739440 reported on a Pde6h knockout mouse model. However, the model failed to replicate the human phenotype as it appears that the mouse showed normal retinal tissue. The authors suggest "species-to-species differences in the vulnerability of biochemical and neurosensory pathways of the visual signal transduction system".

Taken together with my previous review, there is still currently not enough evidence to promote this gene to green status.; Changed rating: AMBER; Changed publications: 22901948, 25739440; Changed phenotypes: Achromatopsia 6, 610024
Retinal disorders v1.149 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v1.149 REEP6 Ivone Leong Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP.

This gene has been given green status based on the evidence provided by the reviewer.
Retinal disorders v1.149 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Retinal disorders v1.148 IDH3A Ivone Leong Classified gene: IDH3A as Green List (high evidence)
Retinal disorders v1.148 IDH3A Ivone Leong Gene: idh3a has been classified as Green List (High Evidence).
Retinal disorders v1.147 IDH3A Ivone Leong gene: IDH3A was added
gene: IDH3A was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 30478029
Phenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma
Review for gene: IDH3A was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status.
Sources: Expert list
Retinal disorders v1.146 Ivone Leong List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
Retinal disorders v1.145 CEP290 Tom Cullup reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604; Phenotypes: LEBER CONGENITAL AMAUROSIS 10, LCA10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Retinal disorders v1.145 REEP6 Ivone Leong Phenotypes for gene: REEP6 were changed from retinitis pigmentosa to retinitis pigmentosa; Retinitis pigmentosa 77, 617304
Retinal disorders v1.144 REEP6 Ivone Leong Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551
Retinal disorders v1.143 CFH Ivone Leong Classified gene: CFH as Green List (high evidence)
Retinal disorders v1.143 CFH Ivone Leong Added comment: Comment on list classification: Promoted from red to green. CFH is associated with Basal laminar drusen (OMIM:126700) in OMIM but not in Gene2Phenotype. There are >3 unrelated cases in OMIM and therefore there is enough evidence to promote this gene to green status.
Retinal disorders v1.143 CFH Ivone Leong Gene: cfh has been classified as Green List (High Evidence).
Retinal disorders v1.142 CFH Ivone Leong Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698 to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700
Retinal disorders v1.140 ABCA4 Ivone Leong Added comment: Comment on mode of inheritance: Changed from both monoallelic and biallelic to just biallelic as adviced by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital). ABCA4 is a susceptibility factor rather than a monogenic cause of macular degeneration; therefore, the monoallelic MOI was removed.
Retinal disorders v1.140 ABCA4 Ivone Leong Mode of inheritance for gene: ABCA4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.139 REEP6 Andrew Webster gene: REEP6 was added
gene: REEP6 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551
Phenotypes for gene: REEP6 were set to retinitis pigmentosa
Penetrance for gene: REEP6 were set to Complete
Review for gene: REEP6 was set to GREEN
Added comment: Sources: Literature
Retinal disorders v1.139 FAM57B Louise Daugherty Deleted their comment
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty Tag new-gene-name tag was added to gene: FAM57B.
Retinal disorders v1.139 MFSD8 Ivone Leong Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.138 KIAA1549 Ivone Leong Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.137 CWC27 Ivone Leong reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 SRD5A3 Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 CWC27 Ivone Leong gene: CWC27 was added
gene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinal disorders v1.137 SRD5A3 Ivone Leong gene: SRD5A3 was added
gene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 28253385; 30019980; 24433453
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Retinal disorders v1.137 ZNF513 Ivone Leong Source NHS GMS was added to ZNF513.
Retinal disorders v1.137 WT1 Ivone Leong Source NHS GMS was added to WT1.
Retinal disorders v1.137 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Retinal disorders v1.137 WASF3 Ivone Leong Source NHS GMS was added to WASF3.
Retinal disorders v1.137 VSX2 Ivone Leong Source NHS GMS was added to VSX2.
Retinal disorders v1.137 VAX1 Ivone Leong Source NHS GMS was added to VAX1.
Retinal disorders v1.137 UNC119 Ivone Leong Source NHS GMS was added to UNC119.
Retinal disorders v1.137 UBAP1L Ivone Leong Source NHS GMS was added to UBAP1L.
Retinal disorders v1.137 TYRP1 Ivone Leong Source NHS GMS was added to TYRP1.
Retinal disorders v1.137 TYR Ivone Leong Source NHS GMS was added to TYR.
Retinal disorders v1.137 TTLL5 Ivone Leong Source NHS GMS was added to TTLL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Retinal disorders v1.137 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Retinal disorders v1.137 TMEM67 Ivone Leong Source NHS GMS was added to TMEM67.
Retinal disorders v1.137 TMEM216 Ivone Leong Source NHS GMS was added to TMEM216.
Retinal disorders v1.137 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Retinal disorders v1.137 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Retinal disorders v1.137 TEX28 Ivone Leong Source NHS GMS was added to TEX28.
Retinal disorders v1.137 TEAD1 Ivone Leong Source NHS GMS was added to TEAD1.
Retinal disorders v1.137 TCTN3 Ivone Leong Source NHS GMS was added to TCTN3.
Retinal disorders v1.137 TCTN2 Ivone Leong Source NHS GMS was added to TCTN2.
Retinal disorders v1.137 TCTN1 Ivone Leong Source NHS GMS was added to TCTN1.
Retinal disorders v1.137 STRA6 Ivone Leong Source NHS GMS was added to STRA6.
Retinal disorders v1.137 SPG7 Ivone Leong Source NHS GMS was added to SPG7.
Retinal disorders v1.137 SOX2 Ivone Leong Source NHS GMS was added to SOX2.
Retinal disorders v1.137 SMOC1 Ivone Leong Source NHS GMS was added to SMOC1.
Retinal disorders v1.137 SLC7A14 Ivone Leong Source NHS GMS was added to SLC7A14.
Retinal disorders v1.137 SLC45A2 Ivone Leong Source NHS GMS was added to SLC45A2.
Retinal disorders v1.137 SLC37A3 Ivone Leong Source NHS GMS was added to SLC37A3.
Retinal disorders v1.137 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Retinal disorders v1.137 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Retinal disorders v1.137 RIMS1 Ivone Leong Source NHS GMS was added to RIMS1.
Retinal disorders v1.137 RGS9BP Ivone Leong Source NHS GMS was added to RGS9BP.
Retinal disorders v1.137 RCBTB1 Ivone Leong Source NHS GMS was added to RCBTB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RB1 Ivone Leong Source NHS GMS was added to RB1.
Retinal disorders v1.137 PRTFDC1 Ivone Leong Source NHS GMS was added to PRTFDC1.
Retinal disorders v1.137 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Retinal disorders v1.137 POMZP3 Ivone Leong Source NHS GMS was added to POMZP3.
Retinal disorders v1.137 PODNL1 Ivone Leong Source NHS GMS was added to PODNL1.
Retinal disorders v1.137 POC1B Ivone Leong Source NHS GMS was added to POC1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLD4 Ivone Leong Source NHS GMS was added to PLD4.
Retinal disorders v1.137 PITX3 Ivone Leong Source NHS GMS was added to PITX3.
Retinal disorders v1.137 PITX2 Ivone Leong Source NHS GMS was added to PITX2.
Retinal disorders v1.137 PITPNM3 Ivone Leong Source NHS GMS was added to PITPNM3.
Retinal disorders v1.137 PDZD7 Ivone Leong Source NHS GMS was added to PDZD7.
Retinal disorders v1.137 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Retinal disorders v1.137 PDAP1 Ivone Leong Source NHS GMS was added to PDAP1.
Retinal disorders v1.137 PAX6 Ivone Leong Source NHS GMS was added to PAX6.
Retinal disorders v1.137 P3H2 Ivone Leong Source NHS GMS was added to P3H2.
Retinal disorders v1.137 OR2M7 Ivone Leong Source NHS GMS was added to OR2M7.
Retinal disorders v1.137 OPN1MW Ivone Leong Source NHS GMS was added to OPN1MW.
Retinal disorders v1.137 OPN1LW Ivone Leong Source NHS GMS was added to OPN1LW.
Retinal disorders v1.137 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Retinal disorders v1.137 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Retinal disorders v1.137 OCA2 Ivone Leong Source NHS GMS was added to OCA2.
Retinal disorders v1.137 NUMB Ivone Leong Source NHS GMS was added to NUMB.
Retinal disorders v1.137 NR2F1 Ivone Leong Source NHS GMS was added to NR2F1.
Retinal disorders v1.137 NEK2 Ivone Leong Source NHS GMS was added to NEK2.
Retinal disorders v1.137 NAALADL1 Ivone Leong Source NHS GMS was added to NAALADL1.
Retinal disorders v1.137 MYOC Ivone Leong Source NHS GMS was added to MYOC.
Retinal disorders v1.137 MVK Ivone Leong Source NHS GMS was added to MVK.
Retinal disorders v1.137 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Retinal disorders v1.137 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Retinal disorders v1.137 MT-ND6 Ivone Leong Source NHS GMS was added to MT-ND6.
Retinal disorders v1.137 MT-ND4 Ivone Leong Source NHS GMS was added to MT-ND4.
Retinal disorders v1.137 MT-ND1 Ivone Leong Source NHS GMS was added to MT-ND1.
Retinal disorders v1.137 MT-ATP6 Ivone Leong Source NHS GMS was added to MT-ATP6.
Retinal disorders v1.137 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Retinal disorders v1.137 LRP2 Ivone Leong Source NHS GMS was added to LRP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRMDA Ivone Leong Source NHS GMS was added to LRMDA.
Retinal disorders v1.137 KIZ Ivone Leong Source NHS GMS was added to KIZ.
Retinal disorders v1.137 KIF7 Ivone Leong Source NHS GMS was added to KIF7.
Retinal disorders v1.137 KIAA1549 Ivone Leong Source NHS GMS was added to KIAA1549.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCTD7 Ivone Leong Source NHS GMS was added to KCTD7.
Retinal disorders v1.137 ITM2B Ivone Leong Source NHS GMS was added to ITM2B.
Retinal disorders v1.137 ITIH2 Ivone Leong Source NHS GMS was added to ITIH2.
Retinal disorders v1.137 IRX5 Ivone Leong Source NHS GMS was added to IRX5.
Retinal disorders v1.137 INVS Ivone Leong Source NHS GMS was added to INVS.
Retinal disorders v1.137 HTRA1 Ivone Leong Source NHS GMS was added to HTRA1.
Retinal disorders v1.137 HMCN1 Ivone Leong Source NHS GMS was added to HMCN1.
Retinal disorders v1.137 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Retinal disorders v1.137 GRN Ivone Leong Source NHS GMS was added to GRN.
Retinal disorders v1.137 GRIP1 Ivone Leong Source NHS GMS was added to GRIP1.
Retinal disorders v1.137 GP1BA Ivone Leong Source NHS GMS was added to GP1BA.
Retinal disorders v1.137 GDF6 Ivone Leong Source NHS GMS was added to GDF6.
Retinal disorders v1.137 FUT5 Ivone Leong Source NHS GMS was added to FUT5.
Retinal disorders v1.137 FSCN2 Ivone Leong Source NHS GMS was added to FSCN2.
Retinal disorders v1.137 FREM2 Ivone Leong Source NHS GMS was added to FREM2.
Retinal disorders v1.137 FREM1 Ivone Leong Source NHS GMS was added to FREM1.
Retinal disorders v1.137 FRAS1 Ivone Leong Source NHS GMS was added to FRAS1.
Retinal disorders v1.137 FOXI2 Ivone Leong Source NHS GMS was added to FOXI2.
Retinal disorders v1.137 FOXE3 Ivone Leong Source NHS GMS was added to FOXE3.
Retinal disorders v1.137 FOXC1 Ivone Leong Source NHS GMS was added to FOXC1.
Retinal disorders v1.137 FBLN5 Ivone Leong Source NHS GMS was added to FBLN5.
Retinal disorders v1.137 FAM71A Ivone Leong Source NHS GMS was added to FAM71A.
Retinal disorders v1.137 FAM57B Ivone Leong Source NHS GMS was added to FAM57B.
Retinal disorders v1.137 EMC1 Ivone Leong Source NHS GMS was added to EMC1.
Retinal disorders v1.137 DTHD1 Ivone Leong Source NHS GMS was added to DTHD1.
Retinal disorders v1.137 DHX38 Ivone Leong Source NHS GMS was added to DHX38.
Retinal disorders v1.137 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Retinal disorders v1.137 CYP1B1 Ivone Leong Source NHS GMS was added to CYP1B1.
Retinal disorders v1.137 CUBN Ivone Leong Source NHS GMS was added to CUBN.
Retinal disorders v1.137 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Retinal disorders v1.137 CROCC Ivone Leong Source NHS GMS was added to CROCC.
Retinal disorders v1.137 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Retinal disorders v1.137 COL9A1 Ivone Leong Source NHS GMS was added to COL9A1.
Retinal disorders v1.137 COL2A1 Ivone Leong Source NHS GMS was added to COL2A1.
Retinal disorders v1.137 COL18A1 Ivone Leong Source NHS GMS was added to COL18A1.
Retinal disorders v1.137 COL11A2 Ivone Leong Source NHS GMS was added to COL11A2.
Retinal disorders v1.137 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.
Retinal disorders v1.137 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Retinal disorders v1.137 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Retinal disorders v1.137 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Retinal disorders v1.137 CFH Ivone Leong Source NHS GMS was added to CFH.
Retinal disorders v1.137 CFB Ivone Leong Source NHS GMS was added to CFB.
Retinal disorders v1.137 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Retinal disorders v1.137 CCZ1B Ivone Leong Source NHS GMS was added to CCZ1B.
Retinal disorders v1.137 CACNA2D4 Ivone Leong Source NHS GMS was added to CACNA2D4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C5orf42 Ivone Leong Source NHS GMS was added to C5orf42.
Retinal disorders v1.137 C3 Ivone Leong Source NHS GMS was added to C3.
Retinal disorders v1.137 C2 Ivone Leong Source NHS GMS was added to C2.
Retinal disorders v1.137 BMP4 Ivone Leong Source NHS GMS was added to BMP4.
Retinal disorders v1.137 BCOR Ivone Leong Source NHS GMS was added to BCOR.
Retinal disorders v1.137 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.
Retinal disorders v1.137 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Retinal disorders v1.137 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Retinal disorders v1.137 ARMS2 Ivone Leong Source NHS GMS was added to ARMS2.
Retinal disorders v1.137 ARL13B Ivone Leong Source NHS GMS was added to ARL13B.
Retinal disorders v1.137 AMN Ivone Leong Source NHS GMS was added to AMN.
Retinal disorders v1.137 ADGRA3 Ivone Leong Source NHS GMS was added to ADGRA3.
Retinal disorders v1.137 ACBD5 Ivone Leong Source NHS GMS was added to ACBD5.
Retinal disorders v1.137 HK1 Ivone Leong Source NHS GMS was added to HK1.
Retinal disorders v1.137 CYP2R1 Ivone Leong Source NHS GMS was added to CYP2R1.
Retinal disorders v1.137 ZNF423 Ivone Leong Source NHS GMS was added to ZNF423.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ZNF408 Ivone Leong Source NHS GMS was added to ZNF408.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDR19 Ivone Leong Source NHS GMS was added to WDR19.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VPS13B Ivone Leong Source NHS GMS was added to VPS13B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VCAN Ivone Leong Source NHS GMS was added to VCAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH2A Ivone Leong Source NHS GMS was added to USH2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1G Ivone Leong Source NHS GMS was added to USH1G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1C Ivone Leong Source NHS GMS was added to USH1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TULP1 Ivone Leong Source NHS GMS was added to TULP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TUB Ivone Leong Source NHS GMS was added to TUB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TSPAN12 Ivone Leong Source NHS GMS was added to TSPAN12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRPM1 Ivone Leong Source NHS GMS was added to TRPM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TOPORS Ivone Leong Source NHS GMS was added to TOPORS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TMEM237 Ivone Leong Source NHS GMS was added to TMEM237.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TIMP3 Ivone Leong Source NHS GMS was added to TIMP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SPATA7 Ivone Leong Source NHS GMS was added to SPATA7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SNRNP200 Ivone Leong Source NHS GMS was added to SNRNP200.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC38A8 Ivone Leong Source NHS GMS was added to SLC38A8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SEMA4A Ivone Leong Source NHS GMS was added to SEMA4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SCAPER Ivone Leong Source NHS GMS was added to SCAPER.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SAG Ivone Leong Source NHS GMS was added to SAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RS1 Ivone Leong Source NHS GMS was added to RS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1 Ivone Leong Source NHS GMS was added to RPGRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGR Ivone Leong Source NHS GMS was added to RPGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP9 Ivone Leong Source NHS GMS was added to RP9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP2 Ivone Leong Source NHS GMS was added to RP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1L1 Ivone Leong Source NHS GMS was added to RP1L1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1 Ivone Leong Source NHS GMS was added to RP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RHO Ivone Leong Source NHS GMS was added to RHO.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGS9 Ivone Leong Source NHS GMS was added to RGS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGR Ivone Leong Source NHS GMS was added to RGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH5 Ivone Leong Source NHS GMS was added to RDH5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH12 Ivone Leong Source NHS GMS was added to RDH12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RD3 Ivone Leong Source NHS GMS was added to RD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP3 Ivone Leong Source NHS GMS was added to RBP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAX2 Ivone Leong Source NHS GMS was added to RAX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAB28 Ivone Leong Source NHS GMS was added to RAB28.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPS1 Ivone Leong Source NHS GMS was added to PRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPH2 Ivone Leong Source NHS GMS was added to PRPH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF8 Ivone Leong Source NHS GMS was added to PRPF8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF6 Ivone Leong Source NHS GMS was added to PRPF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF4 Ivone Leong Source NHS GMS was added to PRPF4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF31 Ivone Leong Source NHS GMS was added to PRPF31.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF3 Ivone Leong Source NHS GMS was added to PRPF3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRCD Ivone Leong Source NHS GMS was added to PRCD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLA2G5 Ivone Leong Source NHS GMS was added to PLA2G5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX2 Ivone Leong Source NHS GMS was added to PEX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX1 Ivone Leong Source NHS GMS was added to PEX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6G Ivone Leong Source NHS GMS was added to PDE6G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6C Ivone Leong Source NHS GMS was added to PDE6C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6B Ivone Leong Source NHS GMS was added to PDE6B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6A Ivone Leong Source NHS GMS was added to PDE6A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCYT1A Ivone Leong Source NHS GMS was added to PCYT1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCDH15 Ivone Leong Source NHS GMS was added to PCDH15.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PANK2 Ivone Leong Source NHS GMS was added to PANK2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OTX2 Ivone Leong Source NHS GMS was added to OTX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OFD1 Ivone Leong Source NHS GMS was added to OFD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OAT Ivone Leong Source NHS GMS was added to OAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NYX Ivone Leong Source NHS GMS was added to NYX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NRL Ivone Leong Source NHS GMS was added to NRL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NR2E3 Ivone Leong Source NHS GMS was added to NR2E3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP4 Ivone Leong Source NHS GMS was added to NPHP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP3 Ivone Leong Source NHS GMS was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP1 Ivone Leong Source NHS GMS was added to NPHP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NMNAT1 Ivone Leong Source NHS GMS was added to NMNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NDP Ivone Leong Source NHS GMS was added to NDP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MYO7A Ivone Leong Source NHS GMS was added to MYO7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFRP Ivone Leong Source NHS GMS was added to MFRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MERTK Ivone Leong Source NHS GMS was added to MERTK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MAK Ivone Leong Source NHS GMS was added to MAK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRIT3 Ivone Leong Source NHS GMS was added to LRIT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRAT Ivone Leong Source NHS GMS was added to LRAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LCA5 Ivone Leong Source NHS GMS was added to LCA5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KLHL7 Ivone Leong Source NHS GMS was added to KLHL7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KIF11 Ivone Leong Source NHS GMS was added to KIF11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNV2 Ivone Leong Source NHS GMS was added to KCNV2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNJ13 Ivone Leong Source NHS GMS was added to KCNJ13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IQCB1 Ivone Leong Source NHS GMS was added to IQCB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 INPP5E Ivone Leong Source NHS GMS was added to INPP5E.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG2 Ivone Leong Source NHS GMS was added to IMPG2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG1 Ivone Leong Source NHS GMS was added to IMPG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPDH1 Ivone Leong Source NHS GMS was added to IMPDH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IFT140 Ivone Leong Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IDH3B Ivone Leong Source NHS GMS was added to IDH3B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HMX1 Ivone Leong Source NHS GMS was added to HMX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HARS Ivone Leong Source NHS GMS was added to HARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCY2D Ivone Leong Source NHS GMS was added to GUCY2D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1B Ivone Leong Source NHS GMS was added to GUCA1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1A Ivone Leong Source NHS GMS was added to GUCA1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRM6 Ivone Leong Source NHS GMS was added to GRM6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRK1 Ivone Leong Source NHS GMS was added to GRK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR179 Ivone Leong Source NHS GMS was added to GPR179.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR143 Ivone Leong Source NHS GMS was added to GPR143.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT2 Ivone Leong Source NHS GMS was added to GNAT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT1 Ivone Leong Source NHS GMS was added to GNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FZD4 Ivone Leong Source NHS GMS was added to FZD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FLVCR1 Ivone Leong Source NHS GMS was added to FLVCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FAM161A Ivone Leong Source NHS GMS was added to FAM161A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EYS Ivone Leong Source NHS GMS was added to EYS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC8 Ivone Leong Source NHS GMS was added to ERCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC6 Ivone Leong Source NHS GMS was added to ERCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ELOVL4 Ivone Leong Source NHS GMS was added to ELOVL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EFEMP1 Ivone Leong Source NHS GMS was added to EFEMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CYP4V2 Ivone Leong Source NHS GMS was added to CYP4V2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CTNNB1 Ivone Leong Source NHS GMS was added to CTNNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CSPP1 Ivone Leong Source NHS GMS was added to CSPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRX Ivone Leong Source NHS GMS was added to CRX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRB1 Ivone Leong Source NHS GMS was added to CRB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 COL4A1 Ivone Leong Source NHS GMS was added to COL4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNNM4 Ivone Leong Source NHS GMS was added to CNNM4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB3 Ivone Leong Source NHS GMS was added to CNGB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB1 Ivone Leong Source NHS GMS was added to CNGB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA3 Ivone Leong Source NHS GMS was added to CNGA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA1 Ivone Leong Source NHS GMS was added to CNGA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLRN1 Ivone Leong Source NHS GMS was added to CLRN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CIB2 Ivone Leong Source NHS GMS was added to CIB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CHM Ivone Leong Source NHS GMS was added to CHM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CERKL Ivone Leong Source NHS GMS was added to CERKL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP78 Ivone Leong Source NHS GMS was added to CEP78.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP290 Ivone Leong Source NHS GMS was added to CEP290.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP164 Ivone Leong Source NHS GMS was added to CEP164.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDHR1 Ivone Leong Source NHS GMS was added to CDHR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH3 Ivone Leong Source NHS GMS was added to CDH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH23 Ivone Leong Source NHS GMS was added to CDH23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CAPN5 Ivone Leong Source NHS GMS was added to CAPN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CACNA1F Ivone Leong Source NHS GMS was added to CACNA1F.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CABP4 Ivone Leong Source NHS GMS was added to CABP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CA4 Ivone Leong Source NHS GMS was added to CA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C21orf2 Ivone Leong Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C1QTNF5 Ivone Leong Source NHS GMS was added to C1QTNF5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BEST1 Ivone Leong Source NHS GMS was added to BEST1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATOH7 Ivone Leong Source NHS GMS was added to ATOH7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATF6 Ivone Leong Source NHS GMS was added to ATF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL2BP Ivone Leong Source NHS GMS was added to ARL2BP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARHGEF18 Ivone Leong Source NHS GMS was added to ARHGEF18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ALMS1 Ivone Leong Source NHS GMS was added to ALMS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AIPL1 Ivone Leong Source NHS GMS was added to AIPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AGBL5 Ivone Leong Source NHS GMS was added to AGBL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADGRV1 Ivone Leong Source NHS GMS was added to ADGRV1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAMTS18 Ivone Leong Source NHS GMS was added to ADAMTS18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAM9 Ivone Leong Source NHS GMS was added to ADAM9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ACO2 Ivone Leong Source NHS GMS was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABCA4 Ivone Leong Source NHS GMS was added to ABCA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WHRN Ivone Leong Source NHS GMS was added to WHRN.
Retinal disorders v1.136 SLC37A3 Ivone Leong Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.135 SLC37A3 Ivone Leong Classified gene: SLC37A3 as Amber List (moderate evidence)
Retinal disorders v1.135 SLC37A3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. There is only one case (PMID: 28041643), therefore, there is currently not enough evidence to promote this gene to green status.
Retinal disorders v1.135 SLC37A3 Ivone Leong Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.134 SLC37A3 Ivone Leong Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry
Retinal disorders v1.133 PDE6H Ivone Leong Classified gene: PDE6H as Amber List (moderate evidence)
Retinal disorders v1.133 PDE6H Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. PDE6H is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. There is currently only 1 case reporting on 2 siblings with retinal cone dystrophy who has a variant in PDE6H (PMID: 15629837). Therefore, there is currently not enough evidence to support promoting this gene to a green status.
Retinal disorders v1.133 PDE6H Ivone Leong Gene: pde6h has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.132 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837; 22901948
Retinal disorders v1.131 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.130 PDE6H Ivone Leong Publications for gene: PDE6H were set to
Retinal disorders v1.129 MFSD8 Ivone Leong Classified gene: MFSD8 as Green List (high evidence)
Retinal disorders v1.129 MFSD8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.129 MFSD8 Ivone Leong Gene: mfsd8 has been classified as Green List (High Evidence).
Retinal disorders v1.128 MFSD8 Ivone Leong Publications for gene: MFSD8 were set to
Retinal disorders v1.127 LRP2 Ivone Leong Classified gene: LRP2 as Green List (high evidence)
Retinal disorders v1.127 LRP2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. LRP2 is associated with a Donnai-Barrow syndrome in OMIM and Gene2Phenotype. Retinal dystrophy is listed as one of the phenotypes in Gene2Phenotype for this gene. There are also >3 unrelated cases of patients with Donnai-Barrow syndrome. Therefore, there is sufficient evidence to promote this gene to green status.
Retinal disorders v1.127 LRP2 Ivone Leong Gene: lrp2 has been classified as Green List (High Evidence).
Retinal disorders v1.126 LRP2 Ivone Leong Publications for gene: LRP2 were set to
Retinal disorders v1.125 TTLL5 Ivone Leong Classified gene: TTLL5 as Green List (high evidence)
Retinal disorders v1.125 TTLL5 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases of patients with retinal dystrophy who have different variants in this gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.125 TTLL5 Ivone Leong Gene: ttll5 has been classified as Green List (High Evidence).
Retinal disorders v1.124 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to 24791901
Retinal disorders v1.123 TTLL5 Ivone Leong Mode of inheritance for gene: TTLL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.122 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to
Retinal disorders v1.121 RCBTB1 Ivone Leong Classified gene: RCBTB1 as Green List (high evidence)
Retinal disorders v1.121 RCBTB1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.
PMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.
PMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.121 RCBTB1 Ivone Leong Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinal disorders v1.120 RCBTB1 Ivone Leong Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v1.119 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to 26908610
Retinal disorders v1.118 RCBTB1 Ivone Leong Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175
Retinal disorders v1.117 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to PMID: 26908610
Retinal disorders v1.116 POC1B Ivone Leong Classified gene: POC1B as Green List (high evidence)
Retinal disorders v1.116 POC1B Ivone Leong Added comment: Comment on list classification: Promoted from red to green. POC1B is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with cone-rod dystrophy who have variants in POC1B gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.116 POC1B Ivone Leong Gene: poc1b has been classified as Green List (High Evidence).
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.114 POC1B Ivone Leong Mode of inheritance for gene: POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.113 PDE6H Ivone Leong Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy; Achromatopsia 6; Retinal cone dystrophy 3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
Retinal disorders v1.112 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome 222448
Retinal disorders v1.111 KIAA1549 Ivone Leong Classified gene: KIAA1549 as Green List (high evidence)
Retinal disorders v1.111 KIAA1549 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.111 KIAA1549 Ivone Leong Gene: kiaa1549 has been classified as Green List (High Evidence).
Retinal disorders v1.110 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to 23105016; 24938718
Retinal disorders v1.109 DHX38 Ivone Leong Classified gene: DHX38 as Amber List (moderate evidence)
Retinal disorders v1.109 DHX38 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. DHX38 is associated with a phenotype in OMIM but not Gene2Phenotype. PMID: 24737827 reports 4 affected siblings from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma who have homozygous c.995G>A variant (G332). No functional studies were performed. PMID: 30208423 reports 2 different consanguineous Pakistani family who have members affected by early-onset retinitis pigmentosa. The authors found that the affected members had homozygous c.971G>A variants (R324Q). No functional studies were performed. Based on this evidence, it was decided that the gene should be promoted to an amber rating.
Retinal disorders v1.109 DHX38 Ivone Leong Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.108 CFH Ivone Leong Phenotypes for gene: CFH were changed from Macular Degeneration to {Macular degeneration, age-related, 4} 610698
Retinal disorders v1.107 DHX38 Ivone Leong Publications for gene: DHX38 were set to
Retinal disorders v1.106 DHX38 Ivone Leong Mode of inheritance for gene: DHX38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.105 DHX38 Ivone Leong Phenotypes for gene: DHX38 were changed from No OMIM disease ID to Retinitis pigmentosa 84, 618220
Retinal disorders v1.104 CACNA2D4 Ivone Leong Classified gene: CACNA2D4 as Green List (high evidence)
Retinal disorders v1.104 CACNA2D4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. CACNA2D4 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with retinal cone dystrophy with different variants in CACNA2D4. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.104 CACNA2D4 Ivone Leong Gene: cacna2d4 has been classified as Green List (High Evidence).
Retinal disorders v1.103 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to 17033974
Retinal disorders v1.102 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to
Retinal disorders v1.101 SEMA4A Ivone Leong Phenotypes for gene: SEMA4A were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa
Retinal disorders v1.100 SEMA4A Ivone Leong Publications for gene: SEMA4A were set to
Retinal disorders v1.99 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to
Retinal disorders v1.98 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652
Retinal disorders v1.97 CA4 Ivone Leong Publications for gene: CA4 were set to
Retinal disorders v1.96 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to
Retinal disorders v1.91 SCAPER Louise Daugherty Publications for gene: SCAPER were set to 28041643
Retinal disorders v1.90 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: GREEN
Retinal disorders v1.90 SCAPER Louise Daugherty Classified gene: SCAPER as Green List (high evidence)
Retinal disorders v1.90 SCAPER Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and internal clinical support for gene-disease association. Retinitis pigmentosa onset is variable and spans child / adult onset depending on the gene, so it is fine to be on the retinal panel.
Retinal disorders v1.90 SCAPER Louise Daugherty Gene: scaper has been classified as Green List (High Evidence).
Retinal disorders v1.89 SCAPER Louise Daugherty Mode of inheritance for gene: SCAPER was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.88 SCAPER Louise Daugherty commented on gene: SCAPER: Past onto internal clinical team for further review and consideration to upgrade rating to Green. Query on Retinitis pigmentosa onset.
Retinal disorders v1.88 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: AMBER
Retinal disorders v1.88 SCAPER Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.
Retinal disorders v1.88 SCAPER Louise Daugherty Phenotypes for gene: SCAPER were changed from More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism to More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism; Intellectual developmental disorder and retinitis pigmentosa, 618195
Retinal disorders v1.87 Ellen McDonagh Panel name changed from Posterior segment abnormalities to Retinal disorders
List of related panels changed from Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Retinal disorders C21orf2 Louise Daugherty commented on gene: C21orf2
Retinal disorders RDH5 Panagiotis Sergouniotis reviewed gene: RDH5
Retinal disorders RP1 Panagiotis Sergouniotis reviewed gene: RP1
Retinal disorders RP1 Panagiotis Sergouniotis reviewed gene: RP1
Retinal disorders PITPNM3 Ellen McDonagh commented on gene: PITPNM3
Retinal disorders HGSNAT Ellen McDonagh classified HGSNAT as Green List (high evidence)
Retinal disorders C2orf71 Louise Daugherty commented on gene: C2orf71
Retinal disorders RPGR Ellen McDonagh edited their review of RPGR
Retinal disorders RPE65 Ellen McDonagh edited their review of RPE65
Retinal disorders CNGB3 Ellen McDonagh edited their review of CNGB3
Retinal disorders CHM Ellen McDonagh edited their review of CHM
Retinal disorders PITPNM3 Andrew Webster reviewed PITPNM3
Retinal disorders HGSNAT Andrew Webster reviewed HGSNAT
Retinal disorders AGBL5 Ellen McDonagh classified AGBL5 as Green List (high evidence)
Retinal disorders AGBL5 Ellen McDonagh classified AGBL5 as Amber List (moderate evidence)
Retinal disorders C5orf42 Louise Daugherty commented on C5orf42
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Green List (high evidence)
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Amber List (moderate evidence)
Retinal disorders PRPS1 Ellen McDonagh Added gene to panel
Retinal disorders C21orf2 Rebecca Foulger classified C21orf2 as green
Retinal disorders C21orf2 Rebecca Foulger edited their review of C21orf2
Retinal disorders GPR143 Rebecca Foulger classified GPR143 as green
Retinal disorders GPR143 Rebecca Foulger commented on GPR143
Retinal disorders SLC38A8 Rebecca Foulger classified SLC38A8 as green
Retinal disorders SLC38A8 Rebecca Foulger commented on SLC38A8
Retinal disorders GPR143 Chris Campbell reviewed GPR143
Retinal disorders SLC38A8 Chris Campbell reviewed SLC38A8
Retinal disorders HGSNAT Ellen Thomas edited their review of HGSNAT
Retinal disorders HGSNAT Ellen Thomas added HGSNAT to panel
Retinal disorders HGSNAT Ellen Thomas reviewed HGSNAT
Retinal disorders C21orf2 Rebecca Foulger commented on C21orf2
Retinal disorders CTNNB1 Sarah Leigh classified CTNNB1 as green
Retinal disorders CTNNB1 Sarah Leigh added CTNNB1 to panel
Retinal disorders CTNNB1 Sarah Leigh reviewed CTNNB1
Retinal disorders EVR3 Louise Daugherty classified EVR3 as grey
Retinal disorders EVR3 Louise Daugherty commented on EVR3
Retinal disorders ARHGEF18 Ellen McDonagh classified ARHGEF18 as green
Retinal disorders ARHGEF18 Ellen McDonagh added ARHGEF18 to panel
Retinal disorders ARHGEF18 Ellen McDonagh reviewed ARHGEF18
Retinal disorders HK1 Ellen McDonagh classified HK1 as amber
Retinal disorders HK1 Ellen McDonagh added HK1 to panel
Retinal disorders HK1 Ellen McDonagh reviewed HK1
Retinal disorders NMNAT1 Ellen McDonagh edited their review of NMNAT1
Retinal disorders ATF6 Ellen McDonagh classified ATF6 as green
Retinal disorders ATF6 Ellen McDonagh classified ATF6 as green
Retinal disorders CEP78 Ellen McDonagh classified CEP78 as green
Retinal disorders CEP78 Ellen McDonagh added CEP78 to panel
Retinal disorders CEP78 Ellen McDonagh reviewed CEP78
Retinal disorders SEMA4A Gavin Arno reviewed SEMA4A
Retinal disorders C10orf11 Louise Daugherty commented on C10orf11
Retinal disorders CYP2R1 Sarah Leigh classified CYP2R1 as amber
Retinal disorders CYP2R1 Sarah Leigh added CYP2R1 to panel
Retinal disorders CYP2R1 Sarah Leigh reviewed CYP2R1
Retinal disorders MT-ND6 Ellen McDonagh commented on MT-ND6
Retinal disorders ERCC6 Richard Scott marked ERCC6 as ready
Retinal disorders ERCC6 Richard Scott classified ERCC6 as green
Retinal disorders ERCC8 Richard Scott marked ERCC8 as ready
Retinal disorders ERCC8 Richard Scott classified ERCC8 as green
Retinal disorders ERCC8 Richard Scott added ERCC8 to panel
Retinal disorders ERCC8 Richard Scott reviewed ERCC8
Retinal disorders ERCC6 Richard Scott reviewed ERCC6
Retinal disorders LRP2 Louise Daugherty classified LRP2 as red
Retinal disorders COL18A1 Louise Daugherty classified COL18A1 as red
Retinal disorders ADGRV1 BRIDGE consortium reviewed ADGRV1
Retinal disorders WASF3 Louise Daugherty commented on WASF3
Retinal disorders UBAP1L Louise Daugherty commented on UBAP1L
Retinal disorders SLC37A3 Louise Daugherty commented on SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty commented on PRTFDC1
Retinal disorders POMZP3 Louise Daugherty commented on POMZP3
Retinal disorders PODNL1 Louise Daugherty commented on PODNL1
Retinal disorders PLD4 Louise Daugherty commented on PLD4
Retinal disorders OR2M7 Louise Daugherty commented on OR2M7
Retinal disorders NUMB Louise Daugherty commented on NUMB
Retinal disorders NAALADL1 Louise Daugherty commented on NAALADL1
Retinal disorders ITIH2 Louise Daugherty commented on ITIH2
Retinal disorders IRX5 Louise Daugherty commented on IRX5
Retinal disorders FUT5 Louise Daugherty commented on FUT5
Retinal disorders FOXI2 Louise Daugherty commented on FOXI2
Retinal disorders FAM71A Louise Daugherty commented on FAM71A
Retinal disorders FAM57B Louise Daugherty commented on FAM57B
Retinal disorders CROCC Louise Daugherty commented on CROCC
Retinal disorders CCZ1B Louise Daugherty commented on CCZ1B
Retinal disorders SCAPER Louise Daugherty commented on SCAPER
Retinal disorders WASF3 Louise Daugherty reviewed WASF3
Retinal disorders UBAP1L Louise Daugherty reviewed UBAP1L
Retinal disorders SLC37A3 Louise Daugherty reviewed SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty reviewed PRTFDC1
Retinal disorders POMZP3 Louise Daugherty reviewed POMZP3
Retinal disorders PODNL1 Louise Daugherty reviewed PODNL1
Retinal disorders PLD4 Louise Daugherty reviewed PLD4
Retinal disorders OR2M7 Louise Daugherty reviewed OR2M7
Retinal disorders NUMB Louise Daugherty reviewed NUMB
Retinal disorders NAALADL1 Louise Daugherty reviewed NAALADL1
Retinal disorders ITIH2 Louise Daugherty reviewed ITIH2
Retinal disorders IRX5 Louise Daugherty reviewed IRX5
Retinal disorders FUT5 Louise Daugherty reviewed FUT5
Retinal disorders FOXI2 Louise Daugherty reviewed FOXI2
Retinal disorders FAM71A Louise Daugherty reviewed FAM71A
Retinal disorders FAM57B Louise Daugherty reviewed FAM57B
Retinal disorders CROCC Louise Daugherty reviewed CROCC
Retinal disorders CCZ1B Louise Daugherty reviewed CCZ1B
Retinal disorders SCAPER Louise Daugherty reviewed SCAPER
Retinal disorders VPS13B BRIDGE consortium reviewed VPS13B
Retinal disorders VCAN BRIDGE consortium reviewed VCAN
Retinal disorders USH2A BRIDGE consortium reviewed USH2A
Retinal disorders USH1C BRIDGE consortium reviewed USH1C
Retinal disorders TSPAN12 BRIDGE consortium reviewed TSPAN12
Retinal disorders TRPM1 BRIDGE consortium reviewed TRPM1
Retinal disorders TOPORS BRIDGE consortium reviewed TOPORS
Retinal disorders SPATA7 BRIDGE consortium reviewed SPATA7
Retinal disorders SNRNP200 BRIDGE consortium reviewed SNRNP200
Retinal disorders RPGRIP1 BRIDGE consortium reviewed RPGRIP1
Retinal disorders RPGR BRIDGE consortium reviewed RPGR
Retinal disorders RPE65 BRIDGE consortium reviewed RPE65
Retinal disorders RP2 BRIDGE consortium reviewed RP2
Retinal disorders RP1 BRIDGE consortium reviewed RP1
Retinal disorders RLBP1 BRIDGE consortium reviewed RLBP1
Retinal disorders RHO BRIDGE consortium reviewed RHO
Retinal disorders RGR BRIDGE consortium reviewed RGR
Retinal disorders RBP4 BRIDGE consortium reviewed RBP4
Retinal disorders PRPH2 BRIDGE consortium reviewed PRPH2
Retinal disorders PRPF8 BRIDGE consortium reviewed PRPF8
Retinal disorders PRPF31 BRIDGE consortium reviewed PRPF31
Retinal disorders PROM1 BRIDGE consortium reviewed PROM1
Retinal disorders PDE6C BRIDGE consortium reviewed PDE6C
Retinal disorders PDE6B BRIDGE consortium reviewed PDE6B
Retinal disorders PCDH15 BRIDGE consortium reviewed PCDH15
Retinal disorders OTX2 BRIDGE consortium reviewed OTX2
Retinal disorders OPN1LW BRIDGE consortium reviewed OPN1LW
Retinal disorders OPA1 BRIDGE consortium reviewed OPA1
Retinal disorders OCA2 BRIDGE consortium reviewed OCA2
Retinal disorders NR2E3 BRIDGE consortium reviewed NR2E3
Retinal disorders NMNAT1 BRIDGE consortium reviewed NMNAT1
Retinal disorders MYO7A BRIDGE consortium reviewed MYO7A
Retinal disorders MFSD8 BRIDGE consortium reviewed MFSD8
Retinal disorders MFRP BRIDGE consortium reviewed MFRP
Retinal disorders MERTK BRIDGE consortium reviewed MERTK
Retinal disorders LRP5 BRIDGE consortium reviewed LRP5
Retinal disorders LRP2 BRIDGE consortium reviewed LRP2
Retinal disorders LCA5 BRIDGE consortium reviewed LCA5
Retinal disorders KLHL7 BRIDGE consortium reviewed KLHL7
Retinal disorders KCNV2 BRIDGE consortium reviewed KCNV2
Retinal disorders IQCB1 BRIDGE consortium reviewed IQCB1
Retinal disorders IMPG2 BRIDGE consortium reviewed IMPG2
Retinal disorders IMPG1 BRIDGE consortium reviewed IMPG1
Retinal disorders GUCY2D BRIDGE consortium reviewed GUCY2D
Retinal disorders GUCA1A BRIDGE consortium reviewed GUCA1A
Retinal disorders GRM6 BRIDGE consortium reviewed GRM6
Retinal disorders GRK1 BRIDGE consortium reviewed GRK1
Retinal disorders GPR98 BRIDGE consortium reviewed GPR98*
Retinal disorders GPR179 BRIDGE consortium reviewed GPR179
Retinal disorders GPR143 BRIDGE consortium reviewed GPR143
Retinal disorders FLVCR1 BRIDGE consortium reviewed FLVCR1
Retinal disorders FAM161A BRIDGE consortium reviewed FAM161A
Retinal disorders EYS BRIDGE consortium reviewed EYS
Retinal disorders CYP4V2 BRIDGE consortium reviewed CYP4V2
Retinal disorders CRX BRIDGE consortium reviewed CRX
Retinal disorders CRB1 BRIDGE consortium reviewed CRB1
Retinal disorders COL2A1 BRIDGE consortium reviewed COL2A1
Retinal disorders COL18A1 BRIDGE consortium reviewed COL18A1
Retinal disorders COL11A2 BRIDGE consortium reviewed COL11A2
Retinal disorders CNGB3 BRIDGE consortium reviewed CNGB3
Retinal disorders CNGB1 BRIDGE consortium reviewed CNGB1
Retinal disorders CNGA3 BRIDGE consortium reviewed CNGA3
Retinal disorders CNGA1 BRIDGE consortium reviewed CNGA1
Retinal disorders CLN3 BRIDGE consortium reviewed CLN3
Retinal disorders CERKL BRIDGE consortium reviewed CERKL
Retinal disorders CEP290 BRIDGE consortium reviewed CEP290
Retinal disorders CDHR1 BRIDGE consortium reviewed CDHR1
Retinal disorders CACNA2D4 BRIDGE consortium reviewed CACNA2D4
Retinal disorders CACNA1F BRIDGE consortium reviewed CACNA1F
Retinal disorders CABP4 BRIDGE consortium reviewed CABP4
Retinal disorders C2orf71 BRIDGE consortium reviewed C2orf71
Retinal disorders BBS10 BRIDGE consortium reviewed BBS10
Retinal disorders BBS1 BRIDGE consortium reviewed BBS1
Retinal disorders ATF6 BRIDGE consortium reviewed ATF6
Retinal disorders ALMS1 BRIDGE consortium reviewed ALMS1
Retinal disorders AIPL1 BRIDGE consortium reviewed AIPL1
Retinal disorders AHI1 BRIDGE consortium reviewed AHI1
Retinal disorders ABHD12 BRIDGE consortium reviewed ABHD12
Retinal disorders ABCA4 BRIDGE consortium reviewed ABCA4
Retinal disorders EVR3 Ellen McDonagh commented on EVR3
Retinal disorders DFNB31 Louise Daugherty commented on DFNB31
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Retinal disorders SLC38A8 Mervyn Thomas added SLC38A8 to panel
Retinal disorders SLC38A8 Mervyn Thomas reviewed SLC38A8
Retinal disorders GPR143 Mervyn Thomas reviewed GPR143
Retinal disorders ABCA4 Ellen Thomas commented on ABCA4
Retinal disorders AGBL5 Ellen Thomas added AGBL5 to panel
Retinal disorders AGBL5 Ellen Thomas reviewed AGBL5
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB