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| Retinal disorders v8.86 | MDM1 |
Siying Lin gene: MDM1 was added gene: MDM1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDM1 were set to PMID: 41742423 Phenotypes for gene: MDM1 were set to Retinal dystrophy Penetrance for gene: MDM1 were set to unknown Mode of pathogenicity for gene: MDM1 was set to Other Review for gene: MDM1 was set to GREEN Added comment: Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy Sources: Literature |
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| Retinal disorders v8.86 | FSD1L |
Siying Lin gene: FSD1L was added gene: FSD1L was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FSD1L were set to 41720099 Phenotypes for gene: FSD1L were set to Retinitis pigmentosa; retinal dystrophy Penetrance for gene: FSD1L were set to unknown Mode of pathogenicity for gene: FSD1L was set to Other Review for gene: FSD1L was set to GREEN Added comment: Lin, Cancellieri, Cao et al (PMID 41720099) describe 6 affected individuals from 4 families with retinitis pigmentosa. 2 affected siblings had both retinitis pigmentosa and a mild neurodevelopmental phenotype; the remaining four individuals had apparent isolated retinal dystrophy, including one individual who underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement. This suggests that FSD1L-associated disease may therefore span a broad phenotypic spectrum, ranging from severe neurodevelopmental syndromes to, at its mildest, non-syndromic retinal dystrophy. Sources: Literature |
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| Retinal disorders v8.86 | MORC2 | Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease.; to: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with syndromic retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MORC2 | Ida Ertmanska commented on gene: MORC2: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MORC2 | Ida Ertmanska Phenotypes for gene: MORC2 were changed from Retinal dystrophy to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Retinal dystrophy, HP:0000556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.85 | MORC2 | Ida Ertmanska Publications for gene: MORC2 were set to PMID: 36791574, 32693025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.84 | MORC2 | Ida Ertmanska Classified gene: MORC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.84 | MORC2 | Ida Ertmanska Gene: morc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.83 | MORC2 | Ida Ertmanska Mode of inheritance for gene: MORC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.82 | MORC2 |
Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: MORC2. Tag Q1_26_NHS_review tag was added to gene: MORC2. |
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| Retinal disorders v8.82 | MORC2 | Ida Ertmanska reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26659848, 32693025, 36791574, 39143067, 40302207; Phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.82 | PAK2 |
Arina Puzriakova changed review comment from: Schnur et al. 2024 (PMID: 38894571) report a de novo heterozygous PAK2 variant c.1217C>T, p.(Thr406Met) in a newborn with clinical manifestations of Knobloch syndrome including congenital heart defects, atretic parietal meningocele, and rapidly progressive retinopathy. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Werren et al. 2025 (PMID: 39876536) report a male infant with a de novo heterozygous PAK2 variant c.1273G>A, p.(Asp425Asn) identified by WGS. Clinical features include GDD, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, failure to thrive, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial dysmorphism. The p.(Asp425Asn) variant resides within the protein kinase domain and was predicted functionally damaging by in silico tools. Further functional studies were not performed. Domenach et al. 2025 (PMID: 39994693) identified a novel de novo PAK2 missense variant in the kinase domain, c.836A>C, p.(Gln279Pro), by prenatal trio exome sequencing in a 24 weeks of gestation fetus whose only identifiable sign was severe bilateral pleural effusion. Lodha et al. 2025 (PMID: 40262506) revealed a PAK2 c.1115A>T, p.(Asp372Val) variant in a neonate with bilateral pleural effusion, suggestive of chylothorax on prenatal imaging, and respiratory distress, purpura fulminans and retinal detachment after birth. Shen et al. 2025 (PMID: 40247748) reported a Chinese family with a proband who primarily presented with epilepsy and developmental delay without the characteristic ocular and structural malformations that define Knobloch syndrome. WES and Sanger validation identified a de novo heterozygous PAK2 variant c.1049G>A, p.(Arg350Lys) located in the kinase domain. In vitro studies demonstrated the variant may lead to reduced protein levels and decreased PAK2 phosphorylation.; to: Schnur et al. 2024 (PMID: 38894571) report a de novo heterozygous PAK2 variant c.1217C>T, p.(Thr406Met) in a newborn with clinical manifestations of Knobloch syndrome including congenital heart defects, atretic parietal meningocele, and rapidly progressive retinopathy. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Werren et al. 2025 (PMID: 39876536) report a male infant with a de novo heterozygous PAK2 variant c.1273G>A, p.(Asp425Asn) identified by WGS. Clinical features include GDD, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, failure to thrive, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial dysmorphism. The p.(Asp425Asn) variant resides within the protein kinase domain and was predicted functionally damaging by in silico tools. Further functional studies were not performed. Lodha et al. 2025 (PMID: 40262506) revealed a PAK2 c.1115A>T, p.(Asp372Val) variant in a neonate with bilateral pleural effusion, suggestive of chylothorax on prenatal imaging, and respiratory distress, purpura fulminans and retinal detachment after birth. Other PAK2 cases not reporting ocular abnormalities: Domenach et al. 2025 (PMID: 39994693) identified a novel de novo PAK2 missense variant in the kinase domain, c.836A>C, p.(Gln279Pro), by prenatal trio exome sequencing in a 24 weeks of gestation fetus whose only identifiable sign was severe bilateral pleural effusion. Shen et al. 2025 (PMID: 40247748) reported a Chinese family with a proband who primarily presented with epilepsy and developmental delay without the characteristic ocular and structural malformations that define Knobloch syndrome. WES and Sanger validation identified a de novo heterozygous PAK2 variant c.1049G>A, p.(Arg350Lys) located in the kinase domain. In vitro studies demonstrated the variant may lead to reduced protein levels and decreased PAK2 phosphorylation. |
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| Retinal disorders v8.82 | PAK2 | Arina Puzriakova Classified gene: PAK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.82 | PAK2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 4 unrelated individuals reported in literature with retinal detachment associated with PAK2‐related Knobloch syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.82 | PAK2 | Arina Puzriakova Gene: pak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.81 | PAK2 | Arina Puzriakova Publications for gene: PAK2 were set to 33693784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.80 | PAK2 | Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: PAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.80 | PAK2 |
Arina Puzriakova edited their review of gene: PAK2: Added comment: Schnur et al. 2024 (PMID: 38894571) report a de novo heterozygous PAK2 variant c.1217C>T, p.(Thr406Met) in a newborn with clinical manifestations of Knobloch syndrome including congenital heart defects, atretic parietal meningocele, and rapidly progressive retinopathy. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Werren et al. 2025 (PMID: 39876536) report a male infant with a de novo heterozygous PAK2 variant c.1273G>A, p.(Asp425Asn) identified by WGS. Clinical features include GDD, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, failure to thrive, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial dysmorphism. The p.(Asp425Asn) variant resides within the protein kinase domain and was predicted functionally damaging by in silico tools. Further functional studies were not performed. Domenach et al. 2025 (PMID: 39994693) identified a novel de novo PAK2 missense variant in the kinase domain, c.836A>C, p.(Gln279Pro), by prenatal trio exome sequencing in a 24 weeks of gestation fetus whose only identifiable sign was severe bilateral pleural effusion. Lodha et al. 2025 (PMID: 40262506) revealed a PAK2 c.1115A>T, p.(Asp372Val) variant in a neonate with bilateral pleural effusion, suggestive of chylothorax on prenatal imaging, and respiratory distress, purpura fulminans and retinal detachment after birth. Shen et al. 2025 (PMID: 40247748) reported a Chinese family with a proband who primarily presented with epilepsy and developmental delay without the characteristic ocular and structural malformations that define Knobloch syndrome. WES and Sanger validation identified a de novo heterozygous PAK2 variant c.1049G>A, p.(Arg350Lys) located in the kinase domain. In vitro studies demonstrated the variant may lead to reduced protein levels and decreased PAK2 phosphorylation.; Changed rating: GREEN; Changed publications to: 33693784, 38894571, 39876536, 39994693, 40262506, 40247748; Changed phenotypes to: Knobloch 2 syndrome, OMIM:618458 |
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| Retinal disorders v8.80 | PAK2 | Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch 2 syndrome to Knobloch 2 syndrome, OMIM:618458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | AIPL1 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: AIPL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | AIPL1 | Ida Ertmanska changed review comment from: Comment on list classification: There is limited evidence for the association of AIPL1 and autosomal dominant cone-rod dystrophy. The overwhelming majority of reported patients has biallelic AIPL1 variants, with heterozygous carriers being unaffected. Variant AIPL1 (p.Ala352_Pro355del) has the most supporting evidence for pathogenicity. However, the allele frequency in control populations is too high to cause dominant disease. In addition, the gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen. Based on available evidence, the MOI should be changed to BIALLELIC.; to: Comment on list classification: There is limited evidence for the association of AIPL1 and autosomal dominant cone-rod dystrophy. An overwhelming majority of reported patients harbour biallelic AIPL1 variants, with heterozygous carriers being unaffected. Variant p.Ala352_Pro355del in AIPL1 has the most supporting evidence for pathogenicity. However, the allele frequency in control populations is too high to cause dominant disease (MAF = 0.01129). In addition, the gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen. Based on available evidence, the MOI should be changed to BIALLELIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. Method: WES in proband, Sanger seq in family members. The same mutation (p.W278X) was found in homozygosity in 5 Italian families and in compound het state with another AIPL1 mutation in 3 other families with recessive LCA (PMID: 21474771). Unlikely to be pathogenic dominant. PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease. Supporting functional evidence: PMID: 33067476 Sacristan-Reviriego et al., 2020 - poses that this deletion has an alternative pathogenicity mechanism: PRD-mediated dominant negative effect causing cone-rod dystrophy PMID: 25274777 Ku et al., 2015 - mouse model where p.A352_P355del human AIPL1 transgene was expressed in an Aipl1 null background. In single transgenic mice, the mutant transgene led to a cone-rod dystrophy phenotype, predominantly leading to a slow and progressive cone degeneration. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. PMID: 21900377 Pennesi et al., 2011 Family 1: patient was found to have a homozygous Trp278 stop mutation in AIPL1; family 2: two siblings were compound heterozygous for AIPL1 (Leu17Pro and Lys214Asn). Variants confirmed in trans, het parents and sister unaffected. Sequenced 14 LCA-causing genes. PMID: 15249368 Dharmaraj et al., 2004 Cohort of 303 LCA patients. Identified seventeen homozygotes and 9 compound heterozygotes. The ERG of a parent heterozygote carrier (het for W88X) revealed significantly reduced rod function, while ERGs for 6 other carrier parents were normal. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). AIPL1-related Leber congenital amaurosis (biallelic_autosomal) is ranked Definitive in Gene2Phenotype.; to: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. Method: WES in proband, Sanger seq in family members. The same mutation (p.W278X) was found in homozygosity in 5 Italian families and in compound het state with another AIPL1 mutation in 3 other families with recessive LCA (PMID: 21474771). Unlikely to be pathogenic dominant. PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease. Supporting functional evidence: PMID: 33067476 Sacristan-Reviriego et al., 2020 - poses that this deletion has an alternative pathogenicity mechanism: PRD-mediated dominant negative effect causing cone-rod dystrophy PMID: 25274777 Ku et al., 2015 - mouse model where p.A352_P355del human AIPL1 transgene was expressed in an Aipl1 null background. In single transgenic mice, the mutant transgene led to a cone-rod dystrophy phenotype, predominantly leading to a slow and progressive cone degeneration. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. PMID: 21900377 Pennesi et al., 2011 Family 1: patient was found to have a homozygous Trp278 stop mutation in AIPL1; family 2: two siblings were compound heterozygous for AIPL1 (Leu17Pro and Lys214Asn). Variants confirmed in trans, het parents and sister unaffected. Sequenced 14 LCA-causing genes. PMID: 15249368 Dharmaraj et al., 2004 Cohort of 303 LCA patients. Identified seventeen homozygotes and 9 compound heterozygotes. The ERG of a parent heterozygote carrier (het for W88X) revealed significantly reduced rod function, while ERGs for 6 other carrier parents were normal. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). AIPL1-related Leber congenital amaurosis (biallelic_autosomal) is ranked Definitive in Gene2Phenotype. |
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| Retinal disorders v8.78 | AIPL1 | Ida Ertmanska edited their review of gene: AIPL1: Added comment: Comment on list classification: There is limited evidence for the association of AIPL1 and autosomal dominant cone-rod dystrophy. The overwhelming majority of reported patients has biallelic AIPL1 variants, with heterozygous carriers being unaffected. Variant AIPL1 (p.Ala352_Pro355del) has the most supporting evidence for pathogenicity. However, the allele frequency in control populations is too high to cause dominant disease. In addition, the gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen. Based on available evidence, the MOI should be changed to BIALLELIC.; Changed publications to: 10873396, 15249368, 21474771, 21900377, 24426771, 25274777, 31576779, 33067476, 38880373; Changed phenotypes to: Leber congenital amaurosis 4, OMIM:604393, Leber congenital amaurosis, MONDO:0018998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 (no PMID?) 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease PMID: 21900377 Pennesi et al., 2011 The first patient was found to have a homozygous Trp278 stop mutation in AIPL1, whereas the siblings were each found to have novel heterozygous mutations in AIPL1 (Leu17Pro and Lys214Asn). Sequenced 14 LCA-causing genes. PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. PMID: 15249368 Dharmaraj et al., 2004 Cohort of 303 LCA patients. Identified seventeen homozygotes and 9 compound heterozygotes. The ERG of a parent heterozygote carrier (het for W88X) revealed significantly reduced rod function, while ERGs for 6 other carrier parents were normal. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). AIPL1-related Leber congenital amaurosis (biallelic_autosomal) is ranked Definitive in Gene2Phenotype.; to: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. Method: WES in proband, Sanger seq in family members. The same mutation (p.W278X) was found in homozygosity in 5 Italian families and in compound het state with another AIPL1 mutation in 3 other families with recessive LCA (PMID: 21474771). Unlikely to be pathogenic dominant. PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease. Supporting functional evidence: PMID: 33067476 Sacristan-Reviriego et al., 2020 - poses that this deletion has an alternative pathogenicity mechanism: PRD-mediated dominant negative effect causing cone-rod dystrophy PMID: 25274777 Ku et al., 2015 - mouse model where p.A352_P355del human AIPL1 transgene was expressed in an Aipl1 null background. In single transgenic mice, the mutant transgene led to a cone-rod dystrophy phenotype, predominantly leading to a slow and progressive cone degeneration. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. PMID: 21900377 Pennesi et al., 2011 Family 1: patient was found to have a homozygous Trp278 stop mutation in AIPL1; family 2: two siblings were compound heterozygous for AIPL1 (Leu17Pro and Lys214Asn). Variants confirmed in trans, het parents and sister unaffected. Sequenced 14 LCA-causing genes. PMID: 15249368 Dharmaraj et al., 2004 Cohort of 303 LCA patients. Identified seventeen homozygotes and 9 compound heterozygotes. The ERG of a parent heterozygote carrier (het for W88X) revealed significantly reduced rod function, while ERGs for 6 other carrier parents were normal. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). AIPL1-related Leber congenital amaurosis (biallelic_autosomal) is ranked Definitive in Gene2Phenotype. |
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| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 (no PMID?) 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025).; to: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 (no PMID?) 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease PMID: 21900377 Pennesi et al., 2011 The first patient was found to have a homozygous Trp278 stop mutation in AIPL1, whereas the siblings were each found to have novel heterozygous mutations in AIPL1 (Leu17Pro and Lys214Asn). Sequenced 14 LCA-causing genes. PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. PMID: 15249368 Dharmaraj et al., 2004 Cohort of 303 LCA patients. Identified seventeen homozygotes and 9 compound heterozygotes. The ERG of a parent heterozygote carrier (het for W88X) revealed significantly reduced rod function, while ERGs for 6 other carrier parents were normal. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). AIPL1-related Leber congenital amaurosis (biallelic_autosomal) is ranked Definitive in Gene2Phenotype. |
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| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025).; to: Monoallelic cases: https://doi.org/10.1016/j.humgen.2025.201413 Ghavidel et al., 2025 (no PMID?) 1 yo Iranian boy, heterozygous for AIPL1: c.834G>A, p.Trp278*. Consanguineous parents. Diagnosed with Leber's congenital amaurosis at 6 months old. Variant has max AF = 0.0004415 in gnomAD v4 (European pop) with 1 homozygote reported. PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease PMID: 10873396 Sohocki, et al., 2000 Identified 11 individuals with biallelic AIPL1 variants, as well as 2 apparently dominant pedigree, with affected individuals heterozygous (AIPL1):c.1053_1064del (p.Ala352_Pro355del). Heterozygous individuals presented with juvenile RP or dominant cone-rod dystrophy. Method: sequenced 6 exons of AIPL1 only. The pedigrees are small, dominant segregation not well established. Biallelic cases: PMID: 38880373 Zhang et al., 2024 Cohort of 51 Chinese patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD); identified 28 disease-causing AIPL1 variants - biallelic cases only. Most common variant in the cohort was c.421C>T, p.Gln141* (18 patients homozygous, 6 heterozygous + another LoF variant). PMID: 31576779 Wan et al., 2019 2 sibs with Leber congenital amaurosis, homozygous for AIPL1 p.Gln81* variant. Parents both heterozygous for the variant, unaffected. PMID: 24426771 Li et al., 2014 Report of autosomal recessive retinal dystrophy in two consanguineous Pakistani families. Homozygous AIPL1: c.773G>C (p.Arg258Pro) variant detected in family 61032, and a homozygous AIPL1: c.465G>T (p.(H93_Q155del)) change in all affected members of family 61227. Heterozygous carriers had no signs of retinitis pigmentosa. https://doi.org/10.1007/s13258-016-0467-6 Moghadam, Vallian & Vallian, 2017 Same homozygous AIPL1 p.W278* identified in 3 Iranian individuals with LCA with no known consanguinity - likely Iranian founder variant. The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). |
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| Retinal disorders v8.78 | MORC2 |
Siying Lin gene: MORC2 was added gene: MORC2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to PMID: 36791574, 32693025 Phenotypes for gene: MORC2 were set to Retinal dystrophy Penetrance for gene: MORC2 were set to unknown Mode of pathogenicity for gene: MORC2 was set to Other Review for gene: MORC2 was set to GREEN Added comment: PMID 32693025 - 5 out of 6 affected individuals who had dilated eye exams had retinal pigmentary abnormalities PMID 36791574 - retinopathy seen in at least 3 out of 7 affected individuals Sources: Literature |
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| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025).; to: PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). |
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| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: PMID: 33067476 Sacristan-Reviriego A, et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025).; to: PMID: 33067476 Sacristan-Reviriego et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). |
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| Retinal disorders v8.78 | AIPL1 |
Ida Ertmanska changed review comment from: PMID: 33067476 Sacristan-Reviriego A, et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported; to: PMID: 33067476 Sacristan-Reviriego A, et al., 2020 Mutation NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) has MAF of 0.01129 (Ashkenazi Jewish population) in gnomAD v4.1.0, and 3 total homozygotes reported - too high to cause dominant disease The gene-disease relationship between AIPL1 and autosomal dominant retinal dystrophy has been classified as Disputed in ClinGen (Retina GCEP, April 2025). |
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| Retinal disorders v8.78 | AIPL1 | Ida Ertmanska reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33067476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | EGFLAM | Ida Ertmanska Phenotypes for gene: EGFLAM were changed from Congenital Stationary Night Blindness to Congenital stationary night blindness, HP:0007642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.77 | EGFLAM | Ida Ertmanska Publications for gene: EGFLAM were set to PMID: 41343198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.76 | EGFLAM | Ida Ertmanska Classified gene: EGFLAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.76 | EGFLAM | Ida Ertmanska Gene: egflam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | EGFLAM |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: EGFLAM. Tag Q4_25_NHS_review tag was added to gene: EGFLAM. |
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| Retinal disorders v8.75 | EGFLAM | Ida Ertmanska commented on gene: EGFLAM: Comment on list classification: As reviewed by Siying Lin, there are 3 individuals from 2 unrelated families reported with biallelic EGFLAM variants and Congenital stationary night blindness. In addition, a knockout mouse model supports the gene's association with a retinal phenotype. Based on available evidence, this gene should be promoted to Green for Retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | EGFLAM | Ida Ertmanska reviewed gene: EGFLAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 18641643, 41343198; Phenotypes: Congenital stationary night blindness, HP:0007642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | RNU4-2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | TBC1D32 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621280) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 100, OMIM:621280; retinitis pigmentosa, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | EGFLAM |
Siying Lin gene: EGFLAM was added gene: EGFLAM was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFLAM were set to PMID: 41343198 Phenotypes for gene: EGFLAM were set to Congenital Stationary Night Blindness Mode of pathogenicity for gene: EGFLAM was set to Other Review for gene: EGFLAM was set to AMBER Added comment: PMID 41343198 - 3 patients from 2 unrelated families with different homozygous LOF variants and CSNB phenotype Sources: Literature |
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| Retinal disorders v8.74 | RNU6-9 |
Achchuthan Shanmugasundram Tag Q4_25_promote_green was removed from gene: RNU6-9. Tag Q3_25_promote_green tag was added to gene: RNU6-9. |
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| Retinal disorders v8.74 | RNU6-8 |
Achchuthan Shanmugasundram Tag Q4_25_promote_green was removed from gene: RNU6-8. Tag Q3_25_promote_green tag was added to gene: RNU6-8. |
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| Retinal disorders v8.74 | RNU4-2 |
Achchuthan Shanmugasundram Tag Q4_25_promote_green was removed from gene: RNU4-2. Tag Q3_25_promote_green tag was added to gene: RNU4-2. |
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| Retinal disorders v8.74 | RNU6-2 |
Achchuthan Shanmugasundram Tag Q4_25_promote_green was removed from gene: RNU6-2. Tag Q3_25_promote_green tag was added to gene: RNU6-2. |
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| Retinal disorders v8.74 | RNU6-1 |
Achchuthan Shanmugasundram Tag Q4_25_promote_green was removed from gene: RNU6-1. Tag Q3_25_promote_green tag was added to gene: RNU6-1. |
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| Retinal disorders v8.74 | RNU6-9 | Ida Ertmanska Tag locus-type-rna-small-nuclear tag was added to gene: RNU6-9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-8 | Ida Ertmanska Tag locus-type-rna-small-nuclear tag was added to gene: RNU6-8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-2 | Ida Ertmanska Tag locus-type-rna-small-nuclear tag was added to gene: RNU6-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-1 | Ida Ertmanska Tag locus-type-rna-small-nuclear tag was added to gene: RNU6-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU4-2 | Ida Ertmanska Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-1 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-1 specific data: n.55_56insG insertion in RNU6-1 reported in patients from 4 diverse RP families - 2 cases suspected to be de novo; n.56_57insG detected in 2 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.74 | RNU6-1 | Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: Recurrent RNU6-1 variants (n.55_56insG & n.56_57insG) were detected in patients from 6 unrelated families with retinitis pigmentosa - 2 cases suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-1 should be promoted to Green for Retinal disorders at the next GMS update.; to: Comment on list classification: Recurrent RNU6-1 variants (n.55_56insG & n.56_57insG) were detected in patients from 6 unrelated families with retinitis pigmentosa - 2 cases suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-1 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-1 | Ida Ertmanska Classified gene: RNU6-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-1 | Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: Recurrent RNU6-1 variants (n.55_56insG & n.56_57insG) were detected in patients from 6 unrelated families with retinitis pigmentosa - 2 cases suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-1 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | RNU6-1 | Ida Ertmanska Gene: rnu6-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.73 | RNU6-1 |
Ida Ertmanska gene: RNU6-1 was added gene: RNU6-1 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-1. Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-1 were set to 39830270 Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-1 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.72 | RNU6-9 | Ida Ertmanska changed review comment from: Comment on list classification: RNU6-9 variants (n.55_56insG & n.56_57insG) were detected in patients from 17 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 6 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-9 should be promoted to Green for Retinal disorders at the next GMS update.; to: Comment on list classification: Recurrent RNU6-9 variants (n.55_56insG & n.56_57insG) were detected in patients from 17 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 6 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-9 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.72 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families - 1 case de novo; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.72 | RNU6-9 | Ida Ertmanska Classified gene: RNU6-9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.72 | RNU6-9 | Ida Ertmanska Gene: rnu6-9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.71 | RNU6-9 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.71 | RNU6-9 | Ida Ertmanska commented on gene: RNU6-9: Comment on list classification: RNU6-9 variants (n.55_56insG & n.56_57insG) were detected in patients from 17 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 6 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-9 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.71 | RNU6-9 |
Ida Ertmanska gene: RNU6-9 was added gene: RNU6-9 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-9. Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-9 were set to 39830270 Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-9 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature Sources: Literature |
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| Retinal disorders v8.70 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families - 3 cases confirmed de novo, 3 suspected to be de novo; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.70 | RNU6-8 | Ida Ertmanska Classified gene: RNU6-8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.70 | RNU6-8 | Ida Ertmanska Added comment: Comment on list classification: Recurrent RNU6-8 variant n.55_56insG was detected in patients from 12 unrelated diverse families with retinitis pigmentosa - 1 case confirmed de novo, 1 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-8 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.70 | RNU6-8 | Ida Ertmanska Gene: rnu6-8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.69 | RNU6-2 | Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: RNU6-2 variants (n.55_56insG & n.56_57insG) were detected in patients from 14 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 3 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-2 should be promoted to Green for Retinal disorders at the next GMS update.; to: Comment on list classification: RNU6-2 variants (n.55_56insG & n.56_57insG) were detected in patients from 14 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 3 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-2 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.69 | RNU6-8 |
Ida Ertmanska gene: RNU6-8 was added gene: RNU6-8 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-8. Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-8 were set to 39830270 Phenotypes for gene: RNU6-8 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-8 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-8 specific data: n.55_56insG insertion in RNU6-8 reported in numerous patients from 12 diverse RP families - 1 case confirmed and 1 suspected to be de novo; n.56_57insG not detected in RNU6-8 (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.68 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.68 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.68 | RNU6-2 | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: RNU6-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.68 | RNU6-2 | Ida Ertmanska Classified gene: RNU6-2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.68 | RNU6-2 | Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: RNU6-2 variants (n.55_56insG & n.56_57insG) were detected in patients from 14 unrelated families with retinitis pigmentosa - 3 cases confirmed de novo, 3 suspected to be de novo. 78% of individuals with U4/U6 changes presented with first RP symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU6-2 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.68 | RNU6-2 | Ida Ertmanska Gene: rnu6-2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.67 | RNU6-2 |
Ida Ertmanska gene: RNU6-2 was added gene: RNU6-2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-2 were set to 39830270 Phenotypes for gene: RNU6-2 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-2 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.66 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.66 | RNU4-2 | Ida Ertmanska commented on gene: RNU4-2: Comment on list classification: Recurrent RNU4-2 variants (n.56T>C & n.18_19insA) were detected in 41 patients from 15 unrelated families with retinitis pigmentosa - 1 case de novo. 78% of the individuals presented with first symptoms during childhood or adolescence. Importantly, 9 obligate carriers from these families had no visual symptoms, hinting at incomplete disease penetrance. Based on the available evidence, RNU4-2 should be promoted to Green for Retinal disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.66 | RNU4-2 | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.66 | RNU4-2 | Ida Ertmanska Classified gene: RNU4-2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.66 | RNU4-2 | Ida Ertmanska Gene: rnu4-2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), cataract/lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), cataract/lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska gene: RNU4-2 was added gene: RNU4-2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU4-2 were set to 39830270 Phenotypes for gene: RNU4-2 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU4-2 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.64 | PTBP1 |
Ida Ertmanska changed review comment from: PMID: 40965981 Masson et al., 2025 27 individuals with heterozygous variants in PTBP1 diagnosed with syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. 12/27 individuals noted to have a variable 'ophthalmological' phenotype: microphthalmos (1), myopia (6), strabismus (1), glaucoma (4), papilledema (1), astigmatism (4), cataract (1), septo-optic dysplasia (1), nystagmus (1), amblyopia (1). Sources: Other; to: PMID: 40965981 Masson et al., 2025 27 individuals with heterozygous variants in PTBP1 diagnosed with syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. 12/27 individuals noted to have a variable 'ophthalmological' phenotype: microphthalmos (1), myopia (6), strabismus (1), glaucoma (4), papilledema (1), astigmatism (4), cataract (1), septo-optic dysplasia (1), nystagmus (1), amblyopia (1). This gene is not yet associated with a phenotype in OMIM (accessed 12th Nov 2025). |
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| Retinal disorders v8.64 | PTBP1 | Ida Ertmanska commented on gene: PTBP1: Comment on list classification: While there are several individuals reported with monoallelic PTBP1 variants with an ocular phenotype as part of a syndromic presentation, the symptoms do not fit into the scope of the Retinal disorders panel. Hence, PTBP1 should be rated Red for Retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.64 | PTBP1 |
Ida Ertmanska gene: PTBP1 was added gene: PTBP1 was added to Retinal disorders. Sources: Other Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTBP1 were set to 40965981 Review for gene: PTBP1 was set to RED Added comment: PMID: 40965981 Masson et al., 2025 27 individuals with heterozygous variants in PTBP1 diagnosed with syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. 12/27 individuals noted to have a variable 'ophthalmological' phenotype: microphthalmos (1), myopia (6), strabismus (1), glaucoma (4), papilledema (1), astigmatism (4), cataract (1), septo-optic dysplasia (1), nystagmus (1), amblyopia (1). Sources: Other |
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| Retinal disorders v8.63 | AIRE |
Ida Ertmanska changed review comment from: MONOALLELIC: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Affected individuals presented with: Enteropathy, gastritis, UC (5/11), vitiligo (2/11), immunodeficiency (2/11), pernicious anemia (2/11). Some variants did not segregate with disease in the families - incomplete penetrance suggested. No ocular phenotype reported in the cohort. BIALLELIC: PMID: 25926518 Borgault et al., 2015 Report of 5 molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months–44 years). All patients showed fundus changes ranging from isolated patchy atrophy of the RPE to an RP-like fundus and attenuated vasculature. P1: female, P539L/P539L - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Alopecia, Growth retardation. P2: male, R257X/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Acne P3: female, c.967_c.979del13/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyoidism, Adrenal insufficiency, Osteopenia, Vitiligo, Sicca syndrome, Multiple bacterial/fungal infections P4: male, R256X/c.967_c.979del13 - systemic findings: Oesophageal candidiasis/stricture, Hypoparathyroidism, Hypogonadism, Nails dystrophy, Alopecia P5: female, c.463G>A/p.G155S/p.G155S - systemic findings: Autoimmune hepatitis, Mucocutaneous candidiasis, Hypoparathyroidism, Addison disease PMID: 34122451 Sakaguchi et al. 2021 2-year-old Japanese girl homozygous for c.415C>T, (p.Arg139Ter), with bilateral autoimmune retinopathy, anti-recoverin antibodies, and steroid-responsive acute liver failure. PMID: 37711606 Wang et al., 2023 3-year-old Chinese boy - F1-II2 - homozygous for c.769C>T, (p.Arg257Ter) - widespread tapetoretinal degeneration without bone-spicule pigmentation. rod and cone responses were non-recordable on ERG recordings. No other systemic symptoms. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Affected individuals presented with: Enteropathy, gastritis, UC (5/11), vitiligo (2/11), immunodeficiency (2/11), pernicious anemia (2/11). Some variants did not segregate with disease in the families - incomplete penetrance suggested. No ocular phenotype reported in the cohort. BIALLELIC: PMID: 25926518 Borgault et al., 2015 Report of 5 molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months–44 years). All patients showed fundus changes ranging from isolated patchy atrophy of the RPE to an RP-like fundus and attenuated vasculature. P1: female, P539L/P539L - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Alopecia, Growth retardation. P2: male, R257X/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Acne P3: female, c.967_c.979del13/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyoidism, Adrenal insufficiency, Osteopenia, Vitiligo, Sicca syndrome, Multiple bacterial/fungal infections P4: male, R256X/c.967_c.979del13 - systemic findings: Oesophageal candidiasis/stricture, Hypoparathyroidism, Hypogonadism, Nails dystrophy, Alopecia P5: female, c.463G>A/p.G155S/p.G155S - systemic findings: Autoimmune hepatitis, Mucocutaneous candidiasis, Hypoparathyroidism, Addison disease PMID: 34122451 Sakaguchi et al. 2021 2-year-old Japanese girl homozygous for c.415C>T, (p.Arg139Ter), with bilateral autoimmune retinopathy, anti-recoverin antibodies, and steroid-responsive acute liver failure. PMID: 37711606 Wang et al., 2023 3-year-old Chinese boy - F1-II2 - homozygous for c.769C>T, (p.Arg257Ter) - widespread tapetoretinal degeneration without bone-spicule pigmentation. rod and cone responses were non-recordable on ERG recordings. No other systemic symptoms. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
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| Retinal disorders v8.63 | AIRE | Ida Ertmanska Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.62 | AIRE | Ida Ertmanska Publications for gene: AIRE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE | Ida Ertmanska Tag Q4_25_MOI tag was added to gene: AIRE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE | Ida Ertmanska changed review comment from: Comment on list mode of inheritance: There are at least 7 unrelated individuals with biallelic variants in AIRE, reported to have retinopathy as part of the APS-1 disease presentation. Monoallelic variants in AIRE have not been linked to retinopathy. Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal.; to: Comment on list mode of inheritance: Autoimmune polyendocrinopathy syndrome type I (APS-1) is characterised primarily by the presence of hypoparathyroidism, adrenal insufficiency, chronic mucocutaneous candidiasis, and enamel hypoplasia. There are at least 7 unrelated individuals with biallelic variants in AIRE, reported to have retinopathy as an additional APS-1 disease presentation. Monoallelic variants in AIRE have not been linked to retinopathy. Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE | Ida Ertmanska edited their review of gene: AIRE: Changed publications to: 25926518, 34122451, 37711606, 37235056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE |
Ida Ertmanska changed review comment from: PMID: 25926518 Borgault et al., 2015 Report of 5 molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months–44 years). All patients showed fundus changes ranging from isolated patchy atrophy of the RPE to an RP-like fundus and attenuated vasculature. P1: female, P539L/P539L - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Alopecia, Growth retardation. P2: male, R257X/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Acne P3: female, c.967_c.979del13/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyoidism, Adrenal insufficiency, Osteopenia, Vitiligo, Sicca syndrome, Multiple bacterial/fungal infections P4: male, R256X/c.967_c.979del13 - systemic findings: Oesophageal candidiasis/stricture, Hypoparathyroidism, Hypogonadism, Nails dystrophy, Alopecia P5: female, c.463G>A/p.G155S/p.G155S - systemic findings: Autoimmune hepatitis, Mucocutaneous candidiasis, Hypoparathyroidism, Addison disease PMID: 34122451 Sakaguchi et al. 2021 2-year-old Japanese girl homozygous for c.415C>T, (p.Arg139Ter), with bilateral autoimmune retinopathy, anti-recoverin antibodies, and steroid-responsive acute liver failure. PMID: 37711606 Wang et al., 2023 3-year-old Chinese boy - F1-II2 - homozygous for c.769C>T, (p.Arg257Ter) - widespread tapetoretinal degeneration without bone-spicule pigmentation. rod and cone responses were non-recordable on ERG recordings. No other systemic symptoms. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Affected individuals presented with: Enteropathy, gastritis, UC (5/11), vitiligo (2/11), immunodeficiency (2/11), pernicious anemia (2/11). Some variants did not segregate with disease in the families - incomplete penetrance suggested. No ocular phenotype reported in the cohort. BIALLELIC: PMID: 25926518 Borgault et al., 2015 Report of 5 molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months–44 years). All patients showed fundus changes ranging from isolated patchy atrophy of the RPE to an RP-like fundus and attenuated vasculature. P1: female, P539L/P539L - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Alopecia, Growth retardation. P2: male, R257X/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyroidism, Acne P3: female, c.967_c.979del13/c.967_c.979del13 - systemic findings: Mucocutaneous candidiasis, Hypoparathyoidism, Adrenal insufficiency, Osteopenia, Vitiligo, Sicca syndrome, Multiple bacterial/fungal infections P4: male, R256X/c.967_c.979del13 - systemic findings: Oesophageal candidiasis/stricture, Hypoparathyroidism, Hypogonadism, Nails dystrophy, Alopecia P5: female, c.463G>A/p.G155S/p.G155S - systemic findings: Autoimmune hepatitis, Mucocutaneous candidiasis, Hypoparathyroidism, Addison disease PMID: 34122451 Sakaguchi et al. 2021 2-year-old Japanese girl homozygous for c.415C>T, (p.Arg139Ter), with bilateral autoimmune retinopathy, anti-recoverin antibodies, and steroid-responsive acute liver failure. PMID: 37711606 Wang et al., 2023 3-year-old Chinese boy - F1-II2 - homozygous for c.769C>T, (p.Arg257Ter) - widespread tapetoretinal degeneration without bone-spicule pigmentation. rod and cone responses were non-recordable on ERG recordings. No other systemic symptoms. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
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| Retinal disorders v8.61 | AIRE | Ida Ertmanska changed review comment from: Comment on list mode of inheritance: There are at least 7 unrelated individuals with biallelic variants in AIRE, reported to have retinopathy as part of the APS-1 disease presentation. Monoallelic variants in AIRE have not been linked to retinopathy. Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal.; to: Comment on list mode of inheritance: There are at least 7 unrelated individuals with biallelic variants in AIRE, reported to have retinopathy as part of the APS-1 disease presentation. Monoallelic variants in AIRE have not been linked to retinopathy. Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE | Ida Ertmanska edited their review of gene: AIRE: Added comment: Comment on list mode of inheritance: There are at least 7 unrelated individuals with biallelic variants in AIRE, reported to have retinopathy as part of the APS-1 disease presentation. Monoallelic variants in AIRE have not been linked to retinopathy. Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | AIRE | Ida Ertmanska reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 25926518, 34122451, 37711606; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.61 | PAX6 | Achchuthan Shanmugasundram Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.60 | FRMD7 | Achchuthan Shanmugasundram commented on gene: FRMD7: This gene is proposed for green rating based on sufficient evidence for the association of FRMD7 variants with foveal hypoplasia. However, expert review is sought from NHS Genomic Laboratory Hubs on the relevance of this phenotype to the scope of retinal disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.60 | FRMD7 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: FRMD7. Tag Q3_25_expert_review tag was added to gene: FRMD7. |
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| Retinal disorders v8.60 | FRMD7 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM accessed on 04 November 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.60 | FRMD7 | Achchuthan Shanmugasundram Phenotypes for gene: FRMD7 were changed from Nystagmus 1, congenital, X-linked, OMIM:310700; Nystagmus, infantile periodic alternating, X-linked, OMIM:310700; foveal hypoplasia, MONDO:0044203 to Nystagmus 1, congenital, X-linked, OMIM:310700; Nystagmus, infantile periodic alternating, X-linked, OMIM:310700; foveal hypoplasia, MONDO:0044203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.59 | PAX6 | Achchuthan Shanmugasundram Classified gene: PAX6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.59 | PAX6 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are multiple families reported with foveal hypoplasia and with monoallelic PAX6 variants. However, expert opinion is sought from the NHS Genomic Laboratory Hubs on whether the foveal hypoplasia phenotype fits within the scope of the retinal disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.59 | PAX6 | Achchuthan Shanmugasundram Gene: pax6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.58 | PAX6 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PAX6. Tag Q3_25_expert_review tag was added to gene: PAX6. |
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| Retinal disorders v8.58 | PAX6 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 04 November 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.58 | PAX6 | Achchuthan Shanmugasundram Phenotypes for gene: PAX6 were changed from Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 to Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; ?Morning glory disc anomaly, OMIM:120430; Aniridia, OMIM:106210; Cataract with late-onset corneal dystrophy, OMIM:106210; Keratitis, OMIM:148190; Optic nerve hypoplasia, OMIM:165550; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.57 | PAX6 | Achchuthan Shanmugasundram edited their review of gene: PAX6: Changed phenotypes to: Foveal hypoplasia 1, OMIM:136520, Microphthalmia/coloboma 12, OMIM:120200, ?Coloboma of optic nerve, OMIM:120430, ?Morning glory disc anomaly, OMIM:120430, Aniridia, OMIM:106210, Cataract with late-onset corneal dystrophy, OMIM:106210, Keratitis, OMIM:148190, Optic nerve hypoplasia, OMIM:165550, Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.57 | PAX6 | Achchuthan Shanmugasundram Phenotypes for gene: PAX6 were changed from Foveal Hypoplasia and Presenile Cataract Syndrome; Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia) to Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | UNC119 | Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: UNC119. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | MCDR3 | Ida Ertmanska changed review comment from: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels currently only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | MCDR3 | Ida Ertmanska changed review comment from: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | MCDR3 |
Ida Ertmanska Source Literature was removed from Region: MCDR3. Source NHS GMS was added to Region: MCDR3. Phenotypes for Region: MCDR3 were changed from Macular Dystrophy to Macular dystrophy, retinal, 3, OMIM:608850 Tag curated_removed was added to Region: MCDR3. |
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| Retinal disorders v8.55 | MCDR3 | Ida Ertmanska reviewed Region: MCDR3: Rating: ; Mode of pathogenicity: None; Publications: 28790370; Phenotypes: Macular dystrophy, retinal, 3, OMIM:608850; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.55 | MCDR3 |
Ronnie Wright Region: MCDR3 was added Region: MCDR3 was added to Retinal disorders. Sources: Literature Mode of inheritance for Region: MCDR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: MCDR3 were set to 28790370 Phenotypes for Region: MCDR3 were set to Macular Dystrophy Penetrance for Region: MCDR3 were set to Complete Review for Region: MCDR3 was set to GREEN Region: MCDR3 was marked as current diagnostic Added comment: The precise 'critical' region and the aetiological mechanism by which this duplication causes disease is not fully understood, yet the coordinates specified above reflect the 'British' origin variant at the MCDR3 locus (for which the greatest evidence is available - segregating in multiple families), identified by Cipriani et al (PMID:28790370). OMIM #608850 Sources: Literature |
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| Retinal disorders v8.55 | RDH5 | Eleanor Williams Added comment: Comment on mode of inheritance: Recommendation that the mode of inheritance be updated to Biallelic only. Only 2 cases with single heterozygous variants were reported in a single publication from 2012 with no further cases reported since | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.55 | RDH5 | Eleanor Williams Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.54 | RDH5 | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 15th October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.54 | RDH5 | Eleanor Williams Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Congenital Stationary Night Blindness; Fundus albipunctatus, 136880; Fundus albipunctatus to Fundus albipunctatus, OMIM:136880; fundus albipunctatus, MONDO:0007639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.53 | RDH5 | Eleanor Williams Publications for gene: RDH5 were set to 21529959; 34726233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams Tag Q3_25_MOI tag was added to gene: RDH5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams edited their review of gene: RDH5: Changed phenotypes to: Fundus albipunctatus, OMIM:136880, fundus albipunctatus, MONDO:0007639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | RDH5 | Eleanor Williams reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529959,, 22815624, 10369264, 25820994, 32232344; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | DHX38 | Arina Puzriakova Classified gene: DHX38 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | DHX38 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - three different homozygous variants identified in four families with retinitis pigmentosa and a zebrafish knockout model supporting a role in retinal development (PMID: 24737827; 30208423; 35719279; 37867960) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.52 | DHX38 | Arina Puzriakova Gene: dhx38 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.51 | DHX38 | Arina Puzriakova Publications for gene: DHX38 were set to 24737827; 30208423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.50 | DHX38 | Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHX38. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.50 | DHX38 | Arina Puzriakova reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: None; Publications: 24737827, 30208423, 35719279, 37867960; Phenotypes: Retinitis pigmentosa 84, OMIM:618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.50 | RLBP1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: All patients reported with the four different, but related phenotypes (MIMs #607475, #136880 & #607476) were identified with biallelic RLBP1 variants. There are no published reports associating monoallelic RLBP1 variants with any relevant phenotype. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.50 | RLBP1 | Achchuthan Shanmugasundram Mode of inheritance for gene: RLBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.49 | RLBP1 | Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: RLBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.49 | RLBP1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 15 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.49 | RLBP1 | Achchuthan Shanmugasundram Phenotypes for gene: RLBP1 were changed from Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod - cone dystrophy; Retinitis punctata albescens; Fundus albipunctatus, 136880; Fundus Albipunctatus; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Fundus albipunctatus, OMIM:136880; Retinitis punctata albescens, OMIM:136880; Bothnia retinal dystrophy, OMIM:607475; Newfoundland rod-cone dystrophy, OMIM:607476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.48 | RLBP1 | Achchuthan Shanmugasundram Publications for gene: RLBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.47 | RLBP1 | Achchuthan Shanmugasundram reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11176989, 11868161, 11453974, 21447491, 32345050, 37883093; Phenotypes: Fundus albipunctatus, OMIM:136880, Retinitis punctata albescens, OMIM:136880, Bothnia retinal dystrophy, OMIM:607475, Newfoundland rod-cone dystrophy, OMIM:607476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.47 | DHX38 | Arina Puzriakova Phenotypes for gene: DHX38 were changed from Retinitis pigmentosa 84, 618220 to Retinitis pigmentosa 84, OMIM:618220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.46 | SAG |
Achchuthan Shanmugasundram changed review comment from: PMID:28549094 (2017) reported the identification of a novel heterozygous variant in the SAG gene (c.440G>T/ p.Cys147Phe) in eight families in a cohort of 300 autosomal dominant retinitis pigmentosa (adRP) families. There were four additional families with adRP were reported in this study with the same heterozygous variant. All 12 families are of Hispanic descent from South Western United States. Haplotype analysis was consistent with a founder mutation event and a distant relationship between all of the families. The mutation dramatically alters a conserved amino acid, is extremely rare in global databases, and was not found in 4000+ exomes from Hispanic controls. PMID:33047631 (2021) reported the identification of the same variant p.Cys147Phe variant in a 3-generation Australian family segregating with adRP. The mutation was found in the proband, his brother, and the brother's affected son, as well as in the proband's asymptomatic 10-year-old son who had not been examined. The variant was not found in the brother's asymptomatic son, who had a normal retinal examination at age 35 years. PMID:40461169 (2025) reported the identification of a novel heterozygous SAG variant (c.442G>A/ p.Gly148Arg) in five unrelated families of Southern Chinese descent from Singapore with adRP. A shared haplotype of 3.2 Mb among four families suggested a founder effect.; to: PMID:28549094 (2017) reported the identification of a novel heterozygous variant in the SAG gene (c.440G>T/ p.Cys147Phe) in eight families in a cohort of 300 autosomal dominant retinitis pigmentosa (adRP) families. There were four additional families with adRP were reported in this study with the same heterozygous variant. All 12 families are of Hispanic descent from South Western United States. Haplotype analysis was consistent with a founder mutation event and a distant relationship between all of the families. The mutation dramatically alters a conserved amino acid, is extremely rare in global databases, and was not found in 4000+ exomes from Hispanic controls. PMID:33047631 (2021) reported the identification of the same variant p.Cys147Phe variant in a 3-generation Australian family segregating with adRP. The mutation was found in the proband, his brother, and the brother's affected son, as well as in the proband's asymptomatic 10-year-old son who had not been examined. The variant was not found in the brother's asymptomatic son, who had a normal retinal examination at age 35 years. PMID:40461169 (2025) reported the identification of a novel heterozygous SAG variant (c.442G>A/ p.Gly148Arg) in five unrelated families of Southern Chinese descent from Singapore with adRP. A shared haplotype of 3.2 Mb among four families suggested a founder effect. The 'founder-effect' tag has been added as the two reported heterozygous variants are suggested to be founder variants. |
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| Retinal disorders v8.46 | SAG | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of both monoallelic and biallelic SAG variants with phenotypes relevant to retinal disorders panel. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.46 | SAG | Achchuthan Shanmugasundram Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.45 | SAG |
Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: SAG. Tag Q3_25_MOI tag was added to gene: SAG. |
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| Retinal disorders v8.45 | SAG | Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (OMIM records accessed on 15 October 2025).; to: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (MIMs #258100, #613758 & #620228). OMIM records were accessed on 15 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.45 | SAG | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (OMIM records accessed on 15 October 2025). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.45 | SAG | Achchuthan Shanmugasundram Phenotypes for gene: SAG were changed from Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 to Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.44 | SAG | Achchuthan Shanmugasundram Phenotypes for gene: SAG were changed from Oguchi disease - 1; Retinitis pigmentosa 47; Oguchi Disease; Congenital Stationary Night Blindness; Oguchi disease-1, 258100; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.43 | SAG | Achchuthan Shanmugasundram Publications for gene: SAG were set to 28549094; 33047631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | SAG | Achchuthan Shanmugasundram edited their review of gene: SAG: Changed phenotypes to: Oguchi disease-1, OMIM:258100, Retinitis pigmentosa 47, autosomal recessive, OMIM:613758, Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | SAG | Achchuthan Shanmugasundram reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28549094, 33047631, 40461169; Phenotypes: Retinitis pigmentosa 47, autosomal recessive, OMIM:613758, Retinitis pigmentosa 96, autosomal dominant, OMIM:620228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: KIAA1549. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic variants with retinal phenotype. However, there is no published evidence linking monoallelic variants to retinal disorder. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Mode of inheritance for gene: KIAA1549 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.41 | KIAA1549 | Achchuthan Shanmugasundram Phenotypes for gene: KIAA1549 were changed from No OMIM phenotype to Retinitis pigmentosa 86, OMIM:618613; retinitis pigmentosa 86, MONDO:0032834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.40 | KIAA1549 | Achchuthan Shanmugasundram Publications for gene: KIAA1549 were set to 23105016; 24938718; 30120214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | KIAA1549 |
Achchuthan Shanmugasundram changed review comment from: PMID:23105016 (2013) reported autozygome-guided exome sequencing in a large cohort of ~150 families with retinal dystrophy, where a novel truncating variant was identified in KIAA1549 as the only variant that remained after filtering in one family. PMID:30120214 (2018) reported the identification of a homozygous missense and a homozygous frameshift variants in KIAA1549 gene via WES in two unrelated families with retinitis pigmentosa. There were two additional cases reported with biallelic KIAA1549 variants and retinitis pigmentosa in two different large cohort studies (PMID:31213501 (2019) & PMID:36819107 (2023)). PMID:34027671 (2021) reported proteomics study on Pomt1 conditional knockout mouse model, which showed that KIAA1549 is a POMT1 substrate requiring O-mannosylation for proper localization and stability. I cannot find any published evidence of patient cases of retinal disorders with monoallelic KIAA1549 variants. Only biallelic variants in KIAA1549 gene have been associated with relevant phenotypes in OMIM (MIM #618613, accessed on 14 October 2025) and Gene2Phenotype (with 'limited' rating on the eye panel). Biallelic KIAA1549 variants have also been associated with retinitis pigmentosa 86 with 'strong' rating by the Retina expert panel on ClinGen (https://search.clinicalgenome.org/CCID:008708).; to: PMID:23105016 (2013) reported autozygome-guided exome sequencing in a large cohort of ~150 families with retinal dystrophy, where a novel truncating variant was identified in KIAA1549 as the only variant that remained after filtering in one family. PMID:30120214 (2018) reported the identification of a homozygous missense and a homozygous frameshift variants in KIAA1549 gene via WES in two unrelated families with retinitis pigmentosa. There were two additional cases reported with biallelic KIAA1549 variants and retinitis pigmentosa in two different large cohort studies (PMID:31213501 (2019) & PMID:36819107 (2023)). PMID:34027671 (2021) reported proteomics study on Pomt1 conditional knockout mouse model, which showed that KIAA1549 is a POMT1 substrate requiring O-mannosylation for proper localization and stability. I cannot find any published evidence of patient cases of retinal disorders with monoallelic KIAA1549 variants. Only biallelic variants in KIAA1549 gene have been associated with relevant phenotypes in OMIM (MIM #618613, accessed on 14 October 2025) and Gene2Phenotype (with 'limited' rating on the eye panel). Biallelic KIAA1549 variants have also been associated with retinitis pigmentosa 86 with 'strong' rating by the Retina expert panel on ClinGen (https://search.clinicalgenome.org/CCID:008708). |
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| Retinal disorders v8.39 | KIAA1549 | Achchuthan Shanmugasundram reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 30120214, 31213501, 34027671, 36819107; Phenotypes: Retinitis pigmentosa 86, OMIM:618613, retinitis pigmentosa 86, MONDO:0032834; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | VSX2 | Ida Ertmanska edited their review of gene: VSX2: Changed publications to: 8630490, 21976963, 23028343, 24001013, 35831950, 36264558, 38994775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | VSX2 |
Ida Ertmanska changed review comment from: Biallelic VSX2 variants often result in microphthalmia, anophthalmia, coloboma (MAC): PMID: 21976963 Reis et al., 2011 2 unrelated consanguineous families with AR isolated bilateral microphthalmia. Pakistani family - affected individuals homozygous for c.668G>C (p.G223A). Iranian family - affected individuals homozygous for c.249delG (p.Leu84SerfsX57). ERG performed on 2 sisters in this family showed inner retinal dysfunction in both. As reviewed by Beisi Xu, there are also at least three different VSX2 variants reported in three unrelated patients with retinopathy and no reported MAC phenotype. PMID: 36264558 Smirnov et al., 2022: 3 patients from 2 unrelated non-consanguineous Turkish families, harbouring homozygous missense variants: c.595C>T, p.(Arg199Cys) and c.698C>T, p.(Pro233Leu). All 3 patients presented with infantile nystagmus, low stable visual acuity, myopia and night blindness, cause by retinopathy with lens luxation. PMID: 24001013 Khan et al., 2013: Case study - Female, 3yo, Saudi Arabian. Phenotype: Poor vision from birth, chorioretinal atrophy, retinal dysfunction; superior lens subluxation and smooth iris. Homozygous for c.773delA; p.(Lys258Serfs*44); variant heterozygous in unaffected brother and consanguineous parents. Homozygous frameshift BCAP29 variant also identified in patient - not much known about this gene. Functional studies in mice and human retinal organoids indicate that the reported VSX2 variants have a variable effect on VSX2’s DNA binding properties, which may explain the phenotypic heterogeneity observed in patients (PMID: 23028343; 35831950; 38994775). This gene is not yet associated with retinal disorders in OMIM or Gene2Phenotype.; to: Biallelic VSX2 (formerly CHX10) variants often result in microphthalmia, anophthalmia, coloboma (MAC). PMID: 21976963 Reis et al., 2011 2 unrelated consanguineous families with AR isolated bilateral microphthalmia. Pakistani family - affected individuals homozygous for c.668G>C (p.G223A). Iranian family - affected individuals homozygous for c.249delG (p.Leu84SerfsX57). ERG performed on 2 sisters in this family showed inner retinal dysfunction in both. As reviewed by Beisi Xu, there are also at least three different VSX2 variants reported in three unrelated patients with retinopathy and no reported MAC phenotype: PMID: 36264558 Smirnov et al., 2022: 3 patients from 2 unrelated non-consanguineous Turkish families, harbouring homozygous missense variants: c.595C>T, p.(Arg199Cys) and c.698C>T, p.(Pro233Leu). All 3 patients presented with infantile nystagmus, low stable visual acuity, myopia and night blindness, cause by retinopathy with lens luxation. PMID: 24001013 Khan et al., 2013: Case study - Female, 3yo, Saudi Arabian. Phenotype: Poor vision from birth, chorioretinal atrophy, retinal dysfunction; superior lens subluxation and smooth iris. Homozygous for c.773delA; p.(Lys258Serfs*44); variant heterozygous in unaffected brother and consanguineous parents. Homozygous frameshift BCAP29 variant also identified in patient - not much known about this gene. Functional studies in mice and human retinal organoids indicate that the reported VSX2 variants have a variable effect on VSX2’s DNA binding properties, which may explain the phenotypic heterogeneity observed in patients (PMID: 23028343; 35831950; 38994775). PMID: 8630490 Burmeister et al., 1996: Mice homozygous for a premature stop codon in VSX2/CHX10 are blind, with obvious microphthalmia, cataractous lens, a thin retina, and no optic nerve. Study notes that loss of VSX2CHX10 leads both to reduced proliferation of retinal progenitors and to a specific absence of differentiated bipolar cells - supportive of MAC / retinal degeneration phenotype seen in patients. This gene is not yet associated with retinal disorders in OMIM or Gene2Phenotype. |
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| Retinal disorders v8.39 | VSX2 | Ida Ertmanska reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976963, 24001013, 36264558; Phenotypes: Microphthalmia, isolated 2, OMIM:610093, retinal disorder, MONDO:0005283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | PDE6H |
Achchuthan Shanmugasundram changed review comment from: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with ncomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported. The mouse model also failed to replicate the human phenotype.; to: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with incomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported. The mouse model also failed to replicate the human phenotype. |
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| Retinal disorders v8.39 | PDE6H | Achchuthan Shanmugasundram Classified gene: PDE6H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | PDE6H | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ronnie Wright, the rating for this gene should remain amber. This is because there is only one variant reported across multiple unrelated patients displaying phenotypic variability and without compelling functional evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | PDE6H | Achchuthan Shanmugasundram Gene: pde6h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.38 | PDE6H |
Achchuthan Shanmugasundram commented on gene: PDE6H: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with ncomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported. The mouse model also failed to replicate the human phenotype. |
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| Retinal disorders v8.38 | PDE6H | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 09 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.38 | PDE6H | Achchuthan Shanmugasundram Phenotypes for gene: PDE6H were changed from Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197 to Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.37 | PDE6H | Achchuthan Shanmugasundram Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.36 | PDE6H | Achchuthan Shanmugasundram Publications for gene: PDE6H were set to 15629837; 22901948; 25739440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.35 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: 22901948, 25739440, 27472364, 35567543, 36980963; Phenotypes: Achromatopsia 6, OMIM:610024, achromatopsia 6, MONDO:0800197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.35 | VSX2 | Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: VSX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.35 | VSX2 | Arina Puzriakova Classified gene: VSX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.35 | VSX2 | Arina Puzriakova Gene: vsx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.34 | VSX2 | Arina Puzriakova Publications for gene: VSX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.33 | VSX2 | Arina Puzriakova Phenotypes for gene: VSX2 were changed from Microphthalmia/coloboma 3, OMIM:610092 to retinal disorder MONDO:0005283; Microphthalmia/coloboma 3, OMIM:610092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.32 | VSX2 | Arina Puzriakova Mode of inheritance for gene: VSX2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.31 | VSX2 | Arina Puzriakova Phenotypes for gene: VSX2 were changed from Eye Disorders to Microphthalmia/coloboma 3, OMIM:610092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.30 | UNC119 | Arina Puzriakova Phenotypes for gene: UNC119 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Dominant; CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399) to Cone-rod dystrophy 24, OMIM:620342; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.29 | UNC119 | Arina Puzriakova Publications for gene: UNC119 were set to 11006213; 23563732; 27079236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.28 | UNC119 | Arina Puzriakova Tag Q3_25_demote_amber tag was added to gene: UNC119. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.28 | PDE6H | Ronnie Wright reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22901948; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.28 | CYP2U1 | Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.28 | CYP2U1 | Arina Puzriakova Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, OMIM:615030; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.27 | CYP2U1 | Arina Puzriakova Publications for gene: CYP2U1 were set to 26914923; 34828401; 39605873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.26 | CYP2U1 | Arina Puzriakova Classified gene: CYP2U1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.26 | CYP2U1 | Arina Puzriakova Gene: cyp2u1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | CYP2U1 | Ida Ertmanska commented on gene: CYP2U1: Comment on list classification: As reviewed by Cassandra Smith, individuals with biallelic variants in CYP2U1 may present with retinal abnormalities, which fits into the scope of this panel - there at least 8 unrelated individuals reported in literature. The retinal disease has a variable age of onset (ranging from 6 to 32 years old in reported cases), sometimes appearing as the first symptom, before spasticity. Based on the available evidence, CYP2U1 should be rated Green for Retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | CYP2U1 | Ida Ertmanska edited their review of gene: CYP2U1: Changed publications to: 23176821, 26914923, 29034544, 33107650, 34546337, 34828401, 38058766, 39605873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | CYP2U1 | Ida Ertmanska edited their review of gene: CYP2U1: Changed publications to: 23176821, 26914923, 33107650, 34828401, 38058766, 39605873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | CYP2U1 | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | CYP2U1 |
Ida Ertmanska commented on gene: CYP2U1: CYP2U1 is known to cause hereditary spastic paraplegia, with a variable spectrum of other symptoms being reported: intellectual disability, dystonia, pseudoxanthoma elasticum, and visual impairments (pigmentary degenerative maculopathy, loss of visual acuity, photophobia). There are at least 8 unrelated individuals with retinal abnormalities with biallelic variants in CYP2U1, harbouring missense, stop-gained, splice-altering, and frameshift variants (PMID: 23176821, 26914923, 33107650, 34828401, 38058766, 39605873). The retinal disease has a variable age of onset (ranging from 6 to 32 years old in reported cases) – sometimes appearing as the first symptom, before spasticity (e.g. PMID:26914923, 39605873). FUNCTIONAL EVIDENCE: A Cyp2u1−/− mouse model recapitulated the retinal impairments observed in patients – mice exhibited a late-onset (18 mo) ophthalmologic phenotype characterized by a cone dystrophy (PMID: 34546337 Pujol et al., 2021). Skin fibroblasts of an individual with c.61_73del, p.(Leu21Trpfs∗19) in CYP2U1 showed reduced oxygen consumption compared to controls, as well as structural abnormalities of the mitochondrial membrane (PMID: 23176821 Tesson et al., 2012). Expressing CYP2U1 with missense variants in HEK293T cells demonstrated that most missense variants were functionally inactive, due to loss of proper heme binding or destabilization of the protein structure (PMID: 29034544 Durand et al., 2018). Thus, the proposed disease mechanism is LoF leading to mitochondrial dysfunction - a common driver for degenerative retinal disease. Based on the available evidence, CYP2U1 should be rated Green for Retinal disorders. The gene is associated with Spastic paraplegia 56, autosomal recessive (OMIM:615030, accessed 17th Sep 2025). It is also Definitive for CYP2U1-related spastic paraplegia in G2P (G2P00349). |
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| Retinal disorders v8.25 | CYP2U1 | Ida Ertmanska reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 26914923, 33107650, 34828401, 38058766, 39605873; Phenotypes: Spastic paraplegia 56, autosomal recessive, OMIM:615030, retinal disorder, MONDO:0005283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | UNC119 | Ida Ertmanska commented on gene: UNC119: Comment on list classification: There are three cone-rod dystrophy patients from three unrelated families reported with heterozygous UNC119 variants. However, there is conflicting evidence regarding pathogenicity of the variants. Due to conflicting evidence, this gene should be demoted to Amber for retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | UNC119 | Ida Ertmanska reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: None; Publications: 11006213, 23563732, 35947183, 30910914; Phenotypes: retinal disorder, MONDO:0005283, Cone-rod dystrophy 24, OMIM:620342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.25 | NR2F1 | Arina Puzriakova Phenotypes for gene: NR2F1 were changed from Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.24 | IFT27 | Arina Puzriakova Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, OMIM:615996 to Bardet-Biedl syndrome 19, OMIM:615996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.23 | POC5 |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. |
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| Retinal disorders v8.23 | SPG11 | Achchuthan Shanmugasundram Classified gene: SPG11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.23 | SPG11 | Achchuthan Shanmugasundram Gene: spg11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.22 | SPG11 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 29 August 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.22 | SPG11 | Achchuthan Shanmugasundram Phenotypes for gene: SPG11 were changed from Retinal dystrophy; spastic paraplegia to Spastic paraplegia 11, autosomal recessive, OMIM:604360; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.21 | SPG11 | Achchuthan Shanmugasundram Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.20 | SPG11 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: SPG11. Tag Q3_25_NHS_review tag was added to gene: SPG11. |
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| Retinal disorders v8.20 | DYRK1A | Achchuthan Shanmugasundram Classified gene: DYRK1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.20 | DYRK1A | Achchuthan Shanmugasundram Gene: dyrk1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Tag Q3_25_NHS_review tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Phenotypes for gene: DYRK1A were changed from FEVR to Intellectual developmental disorder, autosomal dominant 7, OMIM:614104; Retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.18 | DYRK1A | Achchuthan Shanmugasundram Publications for gene: DYRK1A were set to PMID: 40405340; 36736451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.17 | CFI | Achchuthan Shanmugasundram Classified gene: CFI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.17 | CFI | Achchuthan Shanmugasundram Gene: cfi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.16 | CFI | Achchuthan Shanmugasundram Publications for gene: CFI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.15 | CFI | Achchuthan Shanmugasundram Phenotypes for gene: CFI were changed from Early Onset Drsen Maculopathy to Macular degeneration, age related, 13, susceptibility to, OMIM:615439; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | DYRK1A | Ida Ertmanska commented on gene: DYRK1A: Comment on list classification: DYRK1A syndrome patients may present with vision abnormalities, including retinal involvement. There is sufficient evidence available (4 unrelated patients with a retinal phenotype) for the association of monoallelic DYRK1A variants with retinal disorders, which fits into the scope of this panel. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | DYRK1A | Ida Ertmanska reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33159716, 36736451, 40405340, 19081073; Phenotypes: Intellectual developmental disorder, autosomal dominant 7, OMIM:614104, Retinal disorder, MONDO:0005283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | SPG11 | Ida Ertmanska reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19194956, 36343909, 38613257, 39391989; Phenotypes: Spastic paraplegia 11, autosomal recessive, OMIM:604360, retinal disorder, MONDO:0005283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska commented on gene: CFI: Comment on list classification: Macular degeneration was reported in two Tunisian patients, heterozygous for a CFI variant. The reported variant is also common in healthy Tunisian controls. Hence, the gene can only be rated as Red with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI |
Ida Ertmanska changed review comment from: PMID: 25986072 – Two families with carriers of CFI:c.1234G>A p.(Val412Met). 24yo heterozygous carrier Fam3-01 displayed early-onset drusen maculopathy. Individual Fam1-01, 68yo, had advanced age-related macular degeneration – time of onset unknown. 10/200 unrelated Tunisian Jewish controls were reported to carry for the variant (5% allele freq) - too high to cause the disorder. The variant is also present in gnomAD v4.1.0: highest allele freq = 0.0004954 (Middle Eastern population; no homozygotes). OMIM reports a gene association with disease susceptibility (OMIM:615439 Macular degeneration, age related, 13, susceptibility to; accessed 20th Aug 2025).; to: PMID: 25986072 – Two families with carriers of CFI:c.1234G>A p.(Val412Met). 24yo heterozygous carrier Fam3-01 displayed early-onset drusen maculopathy. Individual Fam1-01, 68yo, had advanced age-related macular degeneration – time of onset unknown. 10/200 unrelated Tunisian Jewish controls were reported to carry for the variant (5% allele freq) - too high to cause the disorder. The variant is also present in gnomAD v4.1.0: highest allele freq = 0.0004954 (Middle Eastern population; no homozygotes). OMIM reports a gene association with disease susceptibility (OMIM:615439 Macular degeneration, age related, 13, susceptibility to; accessed 20th Aug 2025). |
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| Retinal disorders v8.14 | CFI | Ida Ertmanska reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: 25986072; Phenotypes: Macular degeneration, age related, 13, susceptibility to, OMIM:615439, retinal disorder, MONDO:0005283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: 25986072; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CYP2U1 | Arina Puzriakova Publications for gene: CYP2U1 were set to PMID: 26914923; 34828401; 39605873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.13 | POC5 | Arina Puzriakova Classified gene: POC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.13 | POC5 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. |
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| Retinal disorders v8.13 | POC5 | Arina Puzriakova Gene: poc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.12 | POC5 | Arina Puzriakova Phenotypes for gene: POC5 were changed from to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.11 | POC5 | Arina Puzriakova Publications for gene: POC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.10 | POC5 | Arina Puzriakova Mode of inheritance for gene: POC5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.9 | POC5 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: POC5. Tag Q3_25_NHS_review tag was added to gene: POC5. |
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| Retinal disorders v8.9 | RP1L1 | Chris Campbell reviewed gene: RP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.9 | FLVCR1 | Eleanor Williams Phenotypes for gene: FLVCR1 were changed from Retinopathy-sensory neuropathy syndrome, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 to Retinopathy-sensory neuropathy syndrome, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.8 | FLVCR1 | Eleanor Williams Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 to Retinopathy-sensory neuropathy syndrome, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.7 | FLVCR1 | Eleanor Williams Phenotypes for gene: FLVCR1 were changed from Eye Disorders; Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | POC5 | Siying Lin reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29272404, 40590205; Phenotypes: Retinal dystrophy, diabetes mellitus, lipodystrophy, renal failure, abnormal muscle physiology; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Classified gene: TBC1D32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating on the retinal disorders panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.6 | TBC1D32 | Achchuthan Shanmugasundram Gene: tbc1d32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.5 | TBC1D32 |
Achchuthan Shanmugasundram gene: TBC1D32 was added gene: TBC1D32 was added to Retinal disorders. Sources: Literature dd_review, Q2_25_ promote_green tags were added to gene: TBC1D32. Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 37768732 Phenotypes for gene: TBC1D32 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: TBC1D32 was set to GREEN Added comment: PMID:37768732 reported the identification of biallelic variants in TBC1D32 gene in four individuals from three unrelated families with retinitis pigmentosa. In addition, data from Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models also support the disease association. This gene is not yet associated with any phenotypes in OMIM. Sources: Literature |
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| Retinal disorders v8.4 | VSX2 | Beisi Xu reviewed gene: VSX2: 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: 36264558, 24001013, 20414678; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, pan-bipolar cell dysfunction, LENS SUBLUXATION, Microphthalmia, isolated 2 610093, Microphthalmia/coloboma 3 610092, CATARACTS, IRIS ABNORMALITIES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.4 | DYRK1A |
Siying Lin gene: DYRK1A was added gene: DYRK1A was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to PMID: 40405340; 36736451 Phenotypes for gene: DYRK1A were set to FEVR Mode of pathogenicity for gene: DYRK1A was set to Other Review for gene: DYRK1A was set to GREEN Added comment: PMID 36736451: one individual with DYRK1A syndrome and anomalous retinal vasculature. PMID 40405340: two individuals with FEVR-like presentations and later likely disease-causing DKRY1A variants identified; the retinal phenotype can be the presenting feature of DYRK1A syndrome Sources: Literature |
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| Retinal disorders v8.4 | CFI |
Siying Lin gene: CFI was added gene: CFI was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFI were set to Early Onset Drsen Maculopathy Penetrance for gene: CFI were set to unknown Review for gene: CFI was set to AMBER Added comment: A rare heterozygous variant in CFI was identified in two Tunisian families: one affected by early-onset drusen maculopathy and the other by “advanced AMD,” although the age of onset in the latter is unknown (PMID: 25986072). Functional studies provide evidence that rare, highly penetrant CFI variants contribute to the genetic burden of AMD (PMIDs: 25788521, 23685748), supporting a potential mechanistic link between these variants and dominantly inherited early-onset drusen maculopathy. Sources: Literature |
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| Retinal disorders v8.4 | CYP2U1 |
Cassandra Smith gene: CYP2U1 was added gene: CYP2U1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to PMID: 26914923; 34828401; 39605873 Review for gene: CYP2U1 was set to GREEN Added comment: In some families, it appears visual symptoms may present before spasticity/neurological phenotype. PMID: 26914923 - Three patients from one family, where visual issues (pigmentary degenerative maculopathy) presented before spasticity. Biallelic loss of function variant identified PMID: 34828401 - Patient presenting with bilateral progressive visual loss and photophobia. Biallelic loss of function variant identified PMID: 39605873 - Two sibs with compound heterozygous variants. One had manifest neurological abnormalities since early childhood; the second had no neurological abnormalities. Both had opthalmological abnormalities Sources: Literature |
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| Retinal disorders v8.4 | RBP3 | Arina Puzriakova Phenotypes for gene: RBP3 were changed from Retinitis pigmentosa 66 , OMIM:615233 to Retinitis pigmentosa 66, OMIM:615233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.3 | RBP3 | Arina Puzriakova Publications for gene: RBP3 were set to Review of the literature from Stephanie Barton - Arno et al (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci. Apr; 56(4):2358-65: Two novel homozygous nonsense mutations (c.1530T>A; p.Y510* and c.3454G>T; p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases; Abu-Safieh et al (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. Feb; 23(2):236-47; NM_002900.2 RBP3 :c.1162C>T; p.(Arg388*) identified in homozygous state in patient with sporadic RP; Li et al (2013) Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). J Biol Chem. Apr 19; 288(16):11395-406: Functional studies to assess pathogenicity of a missense change, D1080N, that was identified in a homozygous state in a patient with ARRP by Den Hollander et al 2009. The mutation abolished IRBP secretion and induced endoplasmic reticulum stress by forming insoluble IRBP-containing complexes via disulfide bonds. Conclude that Loss of normal function and gain of cytotoxic function are the likely mechanisms for retinal degeneration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.2 | RBP3 | Arina Puzriakova Phenotypes for gene: RBP3 were changed from Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa; ?Retinitis pigmentosa 66, 615233 to Retinitis pigmentosa 66 , OMIM:615233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | RLBP1 | Cassandra Smith reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | RDH5 | Cassandra Smith reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | KIAA1549 | Cassandra Smith reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | Achchuthan Shanmugasundram Panel version 8.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.0 | Achchuthan Shanmugasundram promoted panel to version 8.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.26 | THRB |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: THRB. Tag Q2_25_ NHS_review tag was added to gene: THRB. |
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| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Classified gene: THRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Romana Izakovicova, a new variant (c.283G>C p.(Gly95Arg)) was reported in five probands from her clinical practice and 100k diagnostic discovery patients. Hence, there is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.25 | THRB | Achchuthan Shanmugasundram edited their review of gene: THRB: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.25 | C19orf44 | Sarah Leigh reviewed gene: C19orf44: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.25 | C19orf44 | Sarah Leigh Phenotypes for gene: C19orf44 were changed from retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy to late onset retinal dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.24 | C19orf44 | Sarah Leigh Publications for gene: C19orf44 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.23 | C19orf44 | Sarah Leigh Mode of pathogenicity for gene: C19orf44 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.22 | C19orf44 |
Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: C19orf44. Tag Q1_25_ promote_green tag was added to gene: C19orf44. |
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| Retinal disorders v7.22 | C19orf44 | Sarah Leigh Classified gene: C19orf44 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.22 | C19orf44 | Sarah Leigh Gene: c19orf44 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.21 | THRB | Romana Izakovicova reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37547476; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.21 | IDH3G | Sarah Leigh Classified gene: IDH3G as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.21 | IDH3G | Sarah Leigh Gene: idh3g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.20 | IDH3G |
Sarah Leigh gene: IDH3G was added gene: IDH3G was added to Retinal disorders. Sources: Literature Q1_25_ promote_green tags were added to gene: IDH3G. Mode of inheritance for gene: IDH3G 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: IDH3G were set to 40119724 Phenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa Review for gene: IDH3G was set to GREEN Added comment: PMID: 40119724 reports four hemizygous IDH3G single nucleotide variants (SNVs) in males with a X-linked retinitis pigmentosa. A further case was reported with a 25kb deletion, which encompassed the entire IDH3G gene, but also included PLXNB3 and SRPK3 genes. In all cases the IDH3G variant segregated with the disease, this was confirmed by sequencing in two of the families (figure 1 in PMID: 40119724). Functional studies showed that the IDH3G SNVs reduced expression of the IDH3G. Sources: Literature |
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| Retinal disorders v7.19 | AP5B1 | Sarah Leigh Phenotypes for gene: AP5B1 were changed from Macular dystrophy to Lysosomal macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.18 | AP5B1 | Sarah Leigh Publications for gene: AP5B1 were set to PMID 40081374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.17 | AP5B1 | Sarah Leigh Classified gene: AP5B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.17 | AP5B1 | Sarah Leigh Gene: ap5b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.16 | AP5B1 | Sarah Leigh reviewed gene: AP5B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.16 | AP5M1 | Sarah Leigh reviewed gene: AP5M1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.16 | AP5M1 |
Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: AP5M1. Tag Q1_25_ promote_green tag was added to gene: AP5M1. |
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| Retinal disorders v7.16 | AP5M1 | Sarah Leigh Phenotypes for gene: AP5M1 were changed from to Lysosomal macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.15 | AP5M1 | Sarah Leigh Publications for gene: AP5M1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.14 | AP5M1 | Sarah Leigh Classified gene: AP5M1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.14 | AP5M1 | Sarah Leigh Gene: ap5m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.13 | AP5Z1 | Sarah Leigh changed review comment from: In PMID: 40081374, Kaminska et al report variants in three of the genes which encode different subunits of the vesicular fifth adaptor protein (AP-5) complex: AP5Z1, AP5M1, and AP5B1, in patients with a specific form of macular degeneration. Seventeen biallelic AP5Z1 variants were been reported in fourteen unrelated families with macular degeneration. Due to the involvement of variants in the AP-5 complex, the authors suggest that the resultant condition should be called lysosomal macular dystrophy.; to: In PMID: 40081374, Kaminska et al report variants in three of the genes which encode different subunits of the vesicular fifth adaptor protein (AP-5) complex: AP5Z1, AP5M1, and AP5B1, in patients with a specific form of macular degeneration. Seventeen biallelic AP5Z1 variants were been reported in fourteen unrelated families, three homozygous AP5M1 variant were found in three unrelated cases and three biallelic AP5B1 variants were found in two unrelated cases. Due to the involvement of variants in the AP-5 complex, the authors suggest that the resultant condition should be called lysosomal macular dystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.13 | AP5Z1 | Sarah Leigh reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.13 | AP5Z1 | Sarah Leigh Phenotypes for gene: AP5Z1 were changed from Hereditary lysosomal macular dystrophy to Lysosomal macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.12 | AP5Z1 | Sarah Leigh Phenotypes for gene: AP5Z1 were changed from Hereditary macular dystrophy to Hereditary lysosomal macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.11 | AP5Z1 | Sarah Leigh Phenotypes for gene: AP5Z1 were changed from Macular dystrophy to Hereditary macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.10 | AP5Z1 |
Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: AP5Z1. Tag Q1_25_ promote_green tag was added to gene: AP5Z1. |
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| Retinal disorders v7.10 | AP5Z1 | Sarah Leigh Classified gene: AP5Z1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.10 | AP5Z1 | Sarah Leigh Gene: ap5z1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.9 | AP5Z1 | Sarah Leigh Publications for gene: AP5Z1 were set to PMID: 40081374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | AP5B1 |
Siying Lin gene: AP5B1 was added gene: AP5B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5B1 were set to PMID 40081374 Phenotypes for gene: AP5B1 were set to Macular dystrophy Mode of pathogenicity for gene: AP5B1 was set to Other Review for gene: AP5B1 was set to GREEN Added comment: 2 individuals from 2 families with biallelic loss of function variants and macular dystrophy Sources: Literature |
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| Retinal disorders v7.8 | AP5Z1 |
Siying Lin gene: AP5Z1 was added gene: AP5Z1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to PMID: 40081374 Phenotypes for gene: AP5Z1 were set to Macular dystrophy Mode of pathogenicity for gene: AP5Z1 was set to Other Review for gene: AP5Z1 was set to GREEN Added comment: 14 families affected with macular dystrophy with biallelic AP5Z1 variants (mostly loss of function variants) Sources: Literature |
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| Retinal disorders v7.8 | UNC119 | Ronnie Wright reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID:30910914; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | AP5M1 |
Cassandra Smith gene: AP5M1 was added gene: AP5M1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: AP5M1 was set to GREEN Added comment: Not yet findable in PubMed Paper: https://www.cell.com/ajhg/fulltext/S0002-9297(25)00062-X Identified three patients from three different families with biallelic LOF variants and macular dystrophy Sources: Literature |
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| Retinal disorders v7.8 | STX3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | MAN2B1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2B1. Tag Q3_24_NHS_review was removed from gene: MAN2B1. |
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| Retinal disorders v7.8 | DCT |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCT. Tag Q3_24_NHS_review was removed from gene: DCT. |
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| Retinal disorders v7.8 | COQ8B |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COQ8B. Tag Q3_24_NHS_review was removed from gene: COQ8B. |
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| Retinal disorders v7.8 | CLEC3B | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLEC3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | AHR |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AHR. Tag Q3_24_NHS_review was removed from gene: AHR. |
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| Retinal disorders v7.8 | STX3 | Achchuthan Shanmugasundram commented on gene: STX3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | MAN2B1 | Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | DCT | Achchuthan Shanmugasundram reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | COQ8B | Achchuthan Shanmugasundram commented on gene: COQ8B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | CLEC3B | Achchuthan Shanmugasundram commented on gene: CLEC3B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | AHR | Achchuthan Shanmugasundram reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | STX3 |
Achchuthan Shanmugasundram Source NHS GMS was added to STX3. Source Expert Review Green was added to STX3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.7 | MAN2B1 |
Achchuthan Shanmugasundram Source NHS GMS was added to MAN2B1. Source Expert Review Green was added to MAN2B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.7 | DCT |
Achchuthan Shanmugasundram Source NHS GMS was added to DCT. Source Expert Review Green was added to DCT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.7 | COQ8B |
Achchuthan Shanmugasundram Source NHS GMS was added to COQ8B. Source Expert Review Green was added to COQ8B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.7 | CLEC3B |
Achchuthan Shanmugasundram Source NHS GMS was added to CLEC3B. Source Expert Review Green was added to CLEC3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.7 | AHR |
Achchuthan Shanmugasundram Source Expert Review Green was added to AHR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.6 | SAG | Sarah Leigh Publications for gene: SAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.5 | SPG11 |
Siying Lin gene: SPG11 was added gene: SPG11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 Phenotypes for gene: SPG11 were set to Retinal dystrophy; spastic paraplegia Mode of pathogenicity for gene: SPG11 was set to Other Review for gene: SPG11 was set to GREEN Added comment: Kjellin syndrome is a form of complex hereditary spastic paraplegia, associated with 2 genes, SPG11 and SPG15/ZFYVE26. Patients have a consistent retinal phenotype with flecked maculopathy and associated autofluorescence changes. ZFYVE26 is already listed as a green gene on the retinal panel. Sources: Literature |
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| Retinal disorders v7.5 | GPATCH11 | Achchuthan Shanmugasundram Classified gene: GPATCH11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.5 | GPATCH11 | Achchuthan Shanmugasundram Gene: gpatch11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.4 | GPATCH11 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39572588 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.4 | GPATCH11 | Achchuthan Shanmugasundram Publications for gene: GPATCH11 were set to 39572588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.3 | GPATCH11 | Achchuthan Shanmugasundram Phenotypes for gene: GPATCH11 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.2 | GPATCH11 |
Achchuthan Shanmugasundram changed review comment from: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Retinal dystrophy and mild foveolar hypoplasia were reported in one family, whereas macular atrophy was reported in a different family. Signs of retinitis pigmentosa was reported in another family. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v7.2 | GPATCH11 | Achchuthan Shanmugasundram edited their review of gene: GPATCH11: Changed rating: AMBER; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.2 | GPATCH11 |
Achchuthan Shanmugasundram gene: GPATCH11 was added gene: GPATCH11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPATCH11 were set to 39572588 Phenotypes for gene: GPATCH11 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GPATCH11 was set to GREEN Added comment: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v7.1 | DHX38 | Cassandra Smith reviewed gene: DHX38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24737827, 30208423, 37867960; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | C19orf44 |
Andrew Webster gene: C19orf44 was added gene: C19orf44 was added to Retinal disorders. Sources: Research Mode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf44 were set to retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy Penetrance for gene: C19orf44 were set to unknown Mode of pathogenicity for gene: C19orf44 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: C19orf44 was set to GREEN Added comment: Publication accepted by Genetics In Medicine, involving four LOF alleles in 15 affected individuals from 11 families, with four centres contributing (Israel, Boston, Basel, London (UCL/MEH)). GENETMED-D-24-00741R2 Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy Sources: Research |
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| Retinal disorders v7.1 | SAG | Cassandra Smith reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549094, 33047631; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | MAN2B1 | Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | DCT | Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: DCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | RP1L1 |
Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: RP1L1. Tag Q2_24_expert_review was removed from gene: RP1L1. |
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| Retinal disorders v7.1 | PAX6 | Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Foveal hypoplasia 1, OMIM:136520, Microphthalmia/coloboma 12, OMIM:120200, ?Coloboma of optic nerve, OMIM:120430, Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | FRMD7 | Sarah Leigh changed review comment from: FRMD7 variants have been associated with Nystagmus 1, congenital, X-linked (OMIM:310700) and it is a definitive G2P gene for the same condition. In a multicenter study of the Genotypic and Phenotypic Spectrum of Foveal Hypoplasia (FH), Kuht et al (PMID: 35157951) report that FRMD7 variants are associated with 3.5% of the FH cases in the study population. This study also revealed that FRMD7 variants are involved in grade 1 FH or normal foveal morphology and consequently with a good visual acuity in the patients. It was postulated that this maybe due to the delayed action of the FRMD7 variants during development.; to: FRMD7 variants have been associated with Nystagmus 1, congenital, X-linked (OMIM:310700) and it is a definitive G2P gene for the same condition. In a multicenter study of the Genotypic and Phenotypic Spectrum of Foveal Hypoplasia (FH), Kuht et al (PMID: 35157951) report that FRMD7 variants are associated with 3.5% of the FH cases in the study population (a total of 17 FRMD7 variants are recorded in this study - supplementary file 4). This study also revealed that FRMD7 variants are involved in grade 1 FH or normal foveal morphology and consequently with a good visual acuity in the patients. It was postulated that this maybe due to the delayed action of the FRMD7 variants during development. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | FRMD7 | Sarah Leigh edited their review of gene: FRMD7: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | FRMD7 | Sarah Leigh reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 35157951; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.0 | Eleanor Williams promoted panel to version 7.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Classified gene: CLEC3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although the same variant was identified in all five reported families from the same village, this variant recapitulated human phenotypes in mouse model. Hence, this gene can be associated with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Gene: clec3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.21 | CLEC3B | Achchuthan Shanmugasundram Phenotypes for gene: CLEC3B were changed from Macular dystrophy, retinal, 4 to Macular dystrophy, retinal, 4, OMIM:619977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.20 | CLEC3B | Achchuthan Shanmugasundram Publications for gene: CLEC3B were set to PMID: 35331648 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | CLEC3B | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLEC3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | CLEC3B | Achchuthan Shanmugasundram reviewed gene: CLEC3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35331648; Phenotypes: Macular dystrophy, retinal, 4, OMIM:619977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Classified gene: COQ8B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Gene: coq8b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.18 | COQ8B |
Achchuthan Shanmugasundram changed review comment from: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.; to: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type. This gene has not yet been associated with retinal phenotype either in OMIM or in Gene2Phenotype. |
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| Retinal disorders v6.18 | COQ8B | Achchuthan Shanmugasundram commented on gene: COQ8B: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.18 | COQ8B | Achchuthan Shanmugasundram Publications for gene: COQ8B were set to PMID 39226897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.17 | COQ8B | Achchuthan Shanmugasundram Phenotypes for gene: COQ8B were changed from Retinal dystrophy to Retinitis pigmentosa, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | COQ8B |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COQ8B. Tag Q3_24_NHS_review tag was added to gene: COQ8B. |
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| Retinal disorders v6.16 | COQ8B | Achchuthan Shanmugasundram reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39226897; Phenotypes: Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | UBAP1L | Arina Puzriakova Tag gene-checked tag was added to gene: UBAP1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | SLC37A3 | Arina Puzriakova Tag gene-checked tag was added to gene: SLC37A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | SAMD7 | Arina Puzriakova Tag gene-checked tag was added to gene: SAMD7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | SAMD7 | Arina Puzriakova Phenotypes for gene: SAMD7 were changed from macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637 to Macular dystrophy with or without cone dysfunction, OMIM:620762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | PQLC2 | Arina Puzriakova Tag gene-checked tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | MT-TL1 | Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | DCT |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DCT. Tag Q3_24_NHS_review tag was added to gene: DCT. Tag Q3_24_MOI tag was added to gene: DCT. |
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| Retinal disorders v6.15 | DCT | Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.15 | DCT | Sarah Leigh Phenotypes for gene: DCT were changed from oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.14 | DCT | Sarah Leigh Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.13 | DCT | Sarah Leigh Classified gene: DCT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.13 | DCT | Sarah Leigh Gene: dct has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Tag Q3_24_MOI tag was added to gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 |
Sarah Leigh commented on gene: MAN2B1: MAN2B1 variants have been associated with Mannosidosis, alpha-, types I and II, (OMIM:248500). Matlach et al (PMID: 29859105) present a detailed study of the ocular manifestations in OMIM:248500. Using posterior segment examination, fundus photography, and Spectral-Domain optical coherence tomography (SD-OCT) imaging, in a cohort of 32 patients, the authors were able to show the following: Tapeto-retinal degeneration with bone spicule formations in the peripheral retina or macular changes in three patients (9.4%) on funduscopy (two had optic nerve atrophy). Thinning of the outer retinal layer was seen in six patients (18.8%) using OCT. Optic nerve atrophy was seen in six patients (18.8%)(four with partial atrophy). A further two patients (6.3%) had partial optic nerve atrophy with no retinal abnormalities on funduscopy. Cataract was seen in two patients (6.3%), corneal haze was seen in two patients (6.3%). Six patients (18.8%) had manifest strabismus, four (12.5%) nystagmus, and in five patients (15.6%) impaired smooth pursuit eye movements were seen. This study emphasized the importance of detailed examinations, to be able to diagnose early signs of disease. |
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| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAN2B1. Tag Q3_24_NHS_review tag was added to gene: MAN2B1. |
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| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, OMIM:248500 to Mannosidosis, alpha-, types I and II, OMIM:248500; alpha-mannosidosis, MONDO:0009561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.11 | MAN2B1 | Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Retinal dystrophy to Mannosidosis, alpha-, types I and II, OMIM:248500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.10 | MAN2B1 | Sarah Leigh Publications for gene: MAN2B1 were set to PMID:29859105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.9 | MAN2B1 | Sarah Leigh Classified gene: MAN2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.9 | MAN2B1 | Sarah Leigh Gene: man2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.8 | ATXN7_CAG | Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.8 | ATXN7_CAG | Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | ATXN7_CAG |
Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG. Tag Q2_24_NHS_review was removed from STR: ATXN7_CAG. |
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| Retinal disorders v6.7 | ATXN7_CAG | Sarah Leigh commented on STR: ATXN7_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | UBAP1L |
Sarah Leigh Tag Q1_24_promote_green was removed from gene: UBAP1L. Tag Q1_24_NHS_review was removed from gene: UBAP1L. |
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| Retinal disorders v6.7 | TTC21B |
Sarah Leigh Tag Q1_24_promote_green was removed from gene: TTC21B. Tag Q1_24_NHS_review was removed from gene: TTC21B. |
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| Retinal disorders v6.7 | SUMF1 |
Sarah Leigh Tag Q2_24_promote_green was removed from gene: SUMF1. Tag Q2_24_NHS_review was removed from gene: SUMF1. |
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| Retinal disorders v6.7 | SLC37A3 |
Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLC37A3. Tag Q2_24_NHS_review was removed from gene: SLC37A3. |
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| Retinal disorders v6.7 | SAMD7 |
Sarah Leigh Tag Q1_24_promote_green was removed from gene: SAMD7. Tag Q1_24_NHS_review was removed from gene: SAMD7. |
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| Retinal disorders v6.7 | RAX2 | Sarah Leigh Tag Q1_24_MOI was removed from gene: RAX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | PQLC2 | Sarah Leigh Tag Q2_24_promote_green was removed from gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | MT-TL1 |
Sarah Leigh Tag Q1_24_promote_green was removed from gene: MT-TL1. Tag Q1_24_NHS_review was removed from gene: MT-TL1. |
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| Retinal disorders v6.7 | MT-ATP6 |
Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-ATP6. Tag Q2_24_NHS_review was removed from gene: MT-ATP6. |
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| Retinal disorders v6.7 | JAG1 |
Sarah Leigh Tag Q1_24_promote_green was removed from gene: JAG1. Tag Q1_24_NHS_review was removed from gene: JAG1. |
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| Retinal disorders v6.7 | CNGA1 | Sarah Leigh Tag Q1_24_MOI was removed from gene: CNGA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | UBAP1L | Eleanor Williams reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | TTC21B | Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | SUMF1 | Eleanor Williams reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | SLC37A3 | Eleanor Williams reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | SAMD7 | Eleanor Williams reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | RP1L1 | Eleanor Williams reviewed gene: RP1L1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | RAX2 | Eleanor Williams reviewed gene: RAX2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | PQLC2 | Eleanor Williams reviewed gene: PQLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | MT-TL1 | Eleanor Williams reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | MT-ATP6 | Eleanor Williams reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | JAG1 | Eleanor Williams reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | CNGA1 | Eleanor Williams reviewed gene: CNGA1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.6 | UBAP1L |
Sarah Leigh Source Expert Review Green was added to UBAP1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | TTC21B |
Sarah Leigh Source Expert Review Green was added to TTC21B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | SUMF1 |
Sarah Leigh Source NHS GMS was added to SUMF1. Source Expert Review Green was added to SUMF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | SLC37A3 |
Sarah Leigh Source Expert Review Green was added to SLC37A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | SAMD7 |
Sarah Leigh Source NHS GMS was added to SAMD7. Source Expert Review Green was added to SAMD7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | RP1L1 | Sarah Leigh Mode of inheritance for gene RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.6 | RAX2 | Sarah Leigh Mode of inheritance for gene RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.6 | PQLC2 |
Sarah Leigh Source NHS GMS was added to PQLC2. Source Expert Review Green was added to PQLC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | MT-TL1 |
Sarah Leigh Source Expert Review Green was added to MT-TL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | MT-ATP6 |
Sarah Leigh Source Expert Review Green was added to MT-ATP6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | JAG1 |
Sarah Leigh Source Expert Review Green was added to JAG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.6 | CNGA1 | Sarah Leigh Mode of inheritance for gene CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | MAN2B1 |
Siying Lin gene: MAN2B1 was added gene: MAN2B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to PMID:29859105 Phenotypes for gene: MAN2B1 were set to Retinal dystrophy Mode of pathogenicity for gene: MAN2B1 was set to Other Review for gene: MAN2B1 was set to GREEN Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can be the presenting feature in apparent non-syndromic retinal dystrophy (one individual in the Moorfields cohort) Sources: Literature |
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| Retinal disorders v6.5 | COQ8B |
Siying Lin gene: COQ8B was added gene: COQ8B was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID 39226897 Phenotypes for gene: COQ8B were set to Retinal dystrophy Mode of pathogenicity for gene: COQ8B was set to Other Review for gene: COQ8B was set to GREEN Added comment: Recent publication of 4 families with non-syndromic retinal dystrophy associated with biallelic COQ8B variants, with cell-based analysis of recombinant proteins deriving from these genotypes, showing a significant decrease in ligand-protein interaction compared to the wild type. Sources: Literature |
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| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Classified gene: STX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Gene: stx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 |
Achchuthan Shanmugasundram gene: STX3 was added gene: STX3 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX3 were set to 33974130 Phenotypes for gene: STX3 were set to Retinal dystrophy and microvillus inclusion disease, OMIM:619446 Review for gene: STX3 was set to GREEN Added comment: PMID:33974130 assembled a cohort of ten individuals from eight families with microvillus inclusion disease (MVID), which included follow up of five previously reported individuals and five new individuals. All of them had homozygous loss-of-function nonsense variants in STX3 gene. Eight of them presented with a novel syndrome consisting of MVID and early-onset severe retinal dystrophy (EOSRD). All six different variants identified in individuals with MVID and EOSRD are located in exons shared between the STX3A and the STX3B transcripts, while the single variant (p.Arg247Ter) present in other two individuals with MVID only is located in exon 9A and it spares STX3B transcript. Functional studies showed that STX3B transcript is highly expressed in human retina and that the protein is enriched in the inner and outer segments of photoreceptors and in ribbon synapses of the human retina. The study also showed that the inactivation of Stx3 in murine rod photoreceptors leads to a progressive degeneration of photoreceptors, corroborating a recently published study that used a different Stx3 knockout mouse line. In summary, biallelic variants affecting both STX3A and STX3B transcripts cause MVID and EOSRD, while variants affecting only STX3A transcript cause MVID. This gene has been associated with both phenotypes in OMIM (MIMs #619445 & #619446), but not yet in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v6.3 | AHR |
Sarah Leigh Tag watchlist was removed from gene: AHR. Tag Q3_24_promote_green tag was added to gene: AHR. Tag Q3_24_NHS_review tag was added to gene: AHR. |
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| Retinal disorders v6.3 | AHR | Sarah Leigh reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.3 | AHR | Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.2 | AHR | Sarah Leigh Publications for gene: AHR were set to 29726989; 31896775; 31009037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots changed review comment from: Fresh evidence or IRD & high myopia in 37806543; to: Fresh evidence of IRD & high myopia in 37806543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37806543; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.0 | Achchuthan Shanmugasundram promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | RNU4ATAC |
Sarah Leigh Tag locus-type-small-nucleolar was removed from gene: RNU4ATAC. Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. |
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| Retinal disorders v5.15 | RNU4ATAC | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TS2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TH | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | DCT |
Mohammed Derar gene: DCT was added gene: DCT was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) Phenotypes for gene: DCT were set to oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN Added comment: Biallelic variants in DCT are reported to cause oculocutaneous albinism type 8 in multiple unrelated and affected families. This form of albinism has subtle hypopigmentation and displays the classical ocular manifestations of foveal hypoplasia, iris transillumination defect and fundus hypopigmentation. It is therefore imperative to sprobe DCT in patients with retinal abnormalities and presumbly normal pigmentation. Sources: Literature |
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| Retinal disorders v5.15 | SLC38A8 | Mohammed Derar changed review comment from: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies foveal hypoplasia in its syndromic and isolated forms.; to: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies isolated foveal hypoplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | FRMD7 | Mohammed Derar edited their review of gene: FRMD7: Added comment: Further evidence from a study studing 904 patients with foveal hypoplasia detected FRMD7 variants in 3.5% of the cohort. The phenotype associated with FRMD7 mutations was a grade 1 foveal hypoplasia.; Changed publications to: (Choi et al., 2018) (PMID: 30025138), (Thomas et al., 2014) (PMID:24688117), (Kuht et al., 2022) (PMID:35157951) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | FRMD7 |
Mohammed Derar changed review comment from: 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; to: 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 |
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| Retinal disorders v5.15 | PAX6 | Mohammed Derar changed review comment from: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; to: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) having monoallelic variants in PAX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | PAX6 | Mohammed Derar edited their review of gene: PAX6: Added comment: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; Changed publications to: (Hingorani et al., 2009) (PMID: 19218613), (Thomas et al., 2014) (PMID: 23942204), (Cunha et al., 2021) (PMID: 33024313), (Jiang et al., 2021) (PMID:34415986), (Azuma et al., 1996) (https://doi.org/10.1086/302529) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar edited their review of gene: AHR: Added comment: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; Changed publications to: (Mayer et al., 2019) (PMID: 31009037), (Borovok et al., 2020) (PMID: 33193710), (AlMoallem et al., 2022) (PMID:35188035) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | CLEC3B |
Dmitrijs Rots gene: CLEC3B was added gene: CLEC3B was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLEC3B were set to PMID: 35331648 Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4 Review for gene: CLEC3B was set to GREEN Added comment: The study described: "5 multigenerational families diagnosed with autosomal dominant maculoretinopathy were found to carry a pathogenic variant in a new gene, CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Consistent with the disease phenotypes of patients, mice that received subretinal injections with the CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. Moreover, the optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in these mice." Sources: Literature |
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| Retinal disorders v5.15 | ATXN7_CAG |
Sarah Leigh Tag STR tag was added to STR: ATXN7_CAG. Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG. Tag Q2_24_NHS_review tag was added to STR: ATXN7_CAG. |
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| Retinal disorders v5.15 | ATXN7_CAG | Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | ATXN7_CAG | Sarah Leigh Publications for STR: ATXN7_CAG were set to 27632585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.14 | ATXN7_CAG | Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.14 | ATXN7_CAG | Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.13 | ATXN7_CAG | Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Maculopaty; Cone-Rod Dystrophy to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.12 | ATXN7_CAG | Sarah Leigh Publications for STR: ATXN7_CAG were set to PMID: 27632585, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.11 | THRB | Achchuthan Shanmugasundram Classified gene: THRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.11 | THRB |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases, all of them were identified with the same variant and this variant has not yet been functionally characterised. Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has also been added. |
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| Retinal disorders v5.11 | THRB | Achchuthan Shanmugasundram Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.10 | THRB | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: THRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.10 | THRB |
Achchuthan Shanmugasundram gene: THRB was added gene: THRB was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THRB were set to 37547476 Phenotypes for gene: THRB were set to inherited retinal dystrophy, MONDO:0019118 Review for gene: THRB was set to AMBER Added comment: PMID:37547476 reported a family of Spanish decent with autosomal dominant inherited retinal dystrophy (IRD) and monoallelic THRB variant (c.283 + 1G>A). An expanded genetic analysis of the THRB gene in an unsolved IRD cohort also resulted in the identification of the same variant in two additional unrelated families. There are also several studies that have shown a role for THRB gene in cone development in a wide range of model organisms. Sources: Literature |
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| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Classified gene: SUMF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Gene: sumf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.8 | SUMF1 | Achchuthan Shanmugasundram Phenotypes for gene: SUMF1 were changed from Retinal dystrophy to Multiple sulfatase deficiency, OMIM:272200; inherited retinal dystrophy, MONDO:0019118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.7 | SUMF1 | Achchuthan Shanmugasundram Publications for gene: SUMF1 were set to PMID 38863195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | SUMF1 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SUMF1. Tag Q2_24_NHS_review tag was added to gene: SUMF1. |
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| Retinal disorders v5.6 | SUMF1 | Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38863195; Phenotypes: Multiple sulfatase deficiency, OMIM:272200, inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | SUMF1 |
Siying Lin gene: SUMF1 was added gene: SUMF1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to PMID 38863195 Phenotypes for gene: SUMF1 were set to Retinal dystrophy Mode of pathogenicity for gene: SUMF1 was set to Other Review for gene: SUMF1 was set to GREEN Added comment: 3 cases published in literature with biallelic variants in SUMF1 and retinal dystrophy, one paediatric patient had an attenuated phenotype, the other two adult patients had non-syndromic retinal dystrophy. Retinal dystrophy is part of the multiple sulfatase deficiency phenotype typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy Sources: Literature |
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| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Classified gene: PQLC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families/ cases reported with biallelic SLC66A1 variants and retinal disorders. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Gene: pqlc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram commented on gene: PQLC2: HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 |
Achchuthan Shanmugasundram gene: PQLC2 was added gene: PQLC2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PQLC2 were set to 35486108 Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: PQLC2 was set to GREEN Added comment: PMID:35486108 reported whole-exome sequencing with targeted analysis of SLC genes in 913 cases from 785 families with inherited retinal dystrophy. This identified 2 different homozygous variants in SLC66A1 in three individuals from two families with adult-onset retinal dystrophy. Olinger et al. (2024) (https://www.sciencedirect.com/science/article/pii/S2949774424009804) reported CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. This identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy, while parents are heterozygous carriers. Review of cohort data then identified homozygous loss-of-function variants (1 nonsense, 2 frameshift) in another 3 unrelated individuals with rod-cone dystrophy. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v5.4 | CFAP20 | Eleanor Williams Tag gene-checked tag was added to gene: CFAP20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.4 | RPE65 | Arina Puzriakova Tag Q4_23_MOI was removed from gene: RPE65. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.4 | PYGM |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: PYGM. Tag Q3_23_NHS_review was removed from gene: PYGM. |
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| Retinal disorders v5.4 | NBAS |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: NBAS. Tag Q3_23_NHS_review was removed from gene: NBAS. |
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| Retinal disorders v5.4 | MVK |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: MVK. Tag Q4_23_NHS_review was removed from gene: MVK. |
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| Retinal disorders v5.4 | MPDZ |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MPDZ. Tag Q3_23_NHS_review was removed from gene: MPDZ. |
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| Retinal disorders v5.4 | MIR204 |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MIR204. Tag Q3_23_NHS_review was removed from gene: MIR204. |
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| Retinal disorders v5.4 | MCOLN1 | Arina Puzriakova Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, OMIM:252650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | MCOLN1 | Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MCOLN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | DYNC2H1 | Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DYNC2H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | CTNND1 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CTNND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | CFAP20 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CFAP20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | RPE65 | Arina Puzriakova Mode of inheritance for gene RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | PYGM |
Arina Puzriakova Source NHS GMS was added to PYGM. Source Expert Review Green was added to PYGM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | NBAS |
Arina Puzriakova Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | MVK |
Arina Puzriakova Source Expert Review Green was added to MVK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | MPDZ |
Arina Puzriakova Source NHS GMS was added to MPDZ. Source Expert Review Green was added to MPDZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | MIR204 |
Arina Puzriakova Source Expert Review Green was added to MIR204. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | MCOLN1 |
Arina Puzriakova Source NHS GMS was added to MCOLN1. Source Expert Review Green was added to MCOLN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | DYNC2H1 |
Arina Puzriakova Source NHS GMS was added to DYNC2H1. Source Expert Review Green was added to DYNC2H1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | CTNND1 |
Arina Puzriakova Source NHS GMS was added to CTNND1. Source Expert Review Green was added to CTNND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.3 | CFAP20 |
Arina Puzriakova Source NHS GMS was added to CFAP20. Source Expert Review Green was added to CFAP20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.2 | RPE65 | Arina Puzriakova edited their review of gene: RPE65: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | PYGM | Arina Puzriakova reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | NBAS | Arina Puzriakova reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | MVK | Arina Puzriakova reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | MPDZ | Arina Puzriakova reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | MIR204 | Arina Puzriakova reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | MCOLN1 | Arina Puzriakova reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | DYNC2H1 | Arina Puzriakova reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | CTNND1 | Arina Puzriakova reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.2 | CFAP20 | Arina Puzriakova reviewed gene: CFAP20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-05-01 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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'. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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). |
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| 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. |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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. |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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. |
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| 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. |
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| 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). |
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| 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 |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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). |
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| 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). |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| Retinal disorders v2.186 | LIG3 |
Ivone Leong Tag Q2_21_rating was removed from gene: LIG3. Tag watchlist tag was added to gene: LIG3. |
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| 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 |
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| 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. |
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| 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. |
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| 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 |
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| 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). |
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| 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. |
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| 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. |
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| 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. |
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| 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) |
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| 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. |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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. |
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| 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 |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||