| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Stationary Night Blindness v0.24 | Bryony Thompson Copied gene EGFLAM from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.24 | EGFLAM |
Bryony Thompson gene: EGFLAM was added gene: EGFLAM was added to Congenital Stationary Night Blindness. Sources: Expert Review Amber,Literature Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFLAM were set to 41343198; 18641643 Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related |
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| Congenital Stationary Night Blindness v0.23 | GNAT1 | Sangavi Sivagnanasundram reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.22 |
Zornitza Stark HPO terms changed from to Congenital stationary night blindness, HP:0007642; Retinal dystrophy, HP:0000556 List of related panels changed from to Congenital stationary night blindness; HP:0007642; Retinal dystrophy; HP:0000556 |
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| Congenital Stationary Night Blindness v0.21 | CABP4 | Zornitza Stark Marked gene: CABP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.21 | CABP4 | Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.21 | CABP4 | Zornitza Stark Publications for gene: CABP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | CABP4 | Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620, 33369259; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Marked gene: RDH5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Gene: rdh5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.19 | RDH5 | Zornitza Stark Publications for gene: RDH5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.18 | RDH5 | Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.17 | RDH5 | Zornitza Stark reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264, 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.17 | PDE6B | Zornitza Stark Marked gene: PDE6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.17 | PDE6B | Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.17 | PDE6B | Zornitza Stark Publications for gene: PDE6B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.16 | PDE6B | Zornitza Stark Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.15 | PDE6B | Zornitza Stark reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.15 | LRIT3 | Zornitza Stark Marked gene: LRIT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.15 | LRIT3 | Zornitza Stark Gene: lrit3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.15 | LRIT3 | Zornitza Stark Publications for gene: LRIT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.14 | LRIT3 | Zornitza Stark reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.14 | NYX | Zornitza Stark Marked gene: NYX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.14 | NYX | Zornitza Stark Gene: nyx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.14 | NYX | Zornitza Stark Publications for gene: NYX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.13 | NYX | Zornitza Stark reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.13 | GRM6 | Zornitza Stark Marked gene: GRM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.13 | GRM6 | Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.13 | GRM6 | Zornitza Stark Publications for gene: GRM6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.12 | GRM6 | Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.12 | GRK1 | Zornitza Stark Marked gene: GRK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.12 | GRK1 | Zornitza Stark Gene: grk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.12 | GRK1 | Zornitza Stark Publications for gene: GRK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.11 | GRK1 | Zornitza Stark reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33252155; Phenotypes: Oguchi disease-2 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.11 | LRIT3 | Ain Roesley reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.11 | SAG | Zornitza Stark Marked gene: SAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.11 | SAG | Zornitza Stark Gene: sag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.11 | SAG | Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness to Oguchi disease-1, MIM# 258100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.10 | SAG | Zornitza Stark Publications for gene: SAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.9 | SAG | Zornitza Stark reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147; Phenotypes: Oguchi disease-1, MIM# 258100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.9 | RDH5 | Zornitza Stark Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.8 | GPR179 | Zornitza Stark Marked gene: GPR179 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.8 | GPR179 | Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.8 | GPR179 | Zornitza Stark Publications for gene: GPR179 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.7 | GPR179 | Kristin Rigbye reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.7 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.6 | GNB3 | Zornitza Stark Phenotypes for gene: GNB3 were changed from Night blindness, congenital stationary, type 1h to Night blindness, congenital stationary, type 1H, MIM# 617024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.5 | GNB3 | Zornitza Stark Marked gene: GNB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.5 | GNB3 | Zornitza Stark Gene: gnb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.5 | GNB3 | Zornitza Stark Publications for gene: GNB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.4 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.4 | RIMS2 | Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Marked gene: RIMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Classified gene: RIMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | RIMS2 |
Paul De Fazio gene: RIMS2 was added gene: RIMS2 was added to Congenital Stationary Night Blindness. Sources: Literature 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 nystagmus; retinal dysfunction; autism; night blindness Review for gene: RIMS2 was set to GREEN Added comment: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness. Sources: Literature |
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| Congenital Stationary Night Blindness v0.2 | ITM2B | Bryony Thompson Marked gene: ITM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | ITM2B |
Bryony Thompson gene: ITM2B was added gene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 24026677 Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Review for gene: ITM2B was set to RED Added comment: Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues. Sources: Expert list |
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| Congenital Stationary Night Blindness v0.1 | Bryony Thompson Panel name changed from Congenital Stationary Night Blindness_RMH to Congenital Stationary Night Blindness | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.0 | TRPM1 |
Bryony Thompson gene: TRPM1 was added gene: TRPM1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 |
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| Congenital Stationary Night Blindness v0.0 | SLC24A1 |
Bryony Thompson gene: SLC24A1 was added gene: SLC24A1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 |
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| Congenital Stationary Night Blindness v0.0 | SAG |
Bryony Thompson gene: SAG was added gene: SAG was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAG were set to Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness |
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| Congenital Stationary Night Blindness v0.0 | RPE65 |
Bryony Thompson gene: RPE65 was added gene: RPE65 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100; Leber Congenital Amaurosis; Leber congenital amaurosis 2 |
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| Congenital Stationary Night Blindness v0.0 | RHO |
Bryony Thompson gene: RHO was added gene: RHO was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RHO were set to Retinitis punctata albescens; Retinitis pigmentosa; Night blindness, congenital stationary autosomal dominant 1 |
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| Congenital Stationary Night Blindness v0.0 | RDH5 |
Bryony Thompson gene: RDH5 was added gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness |
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| Congenital Stationary Night Blindness v0.0 | PDE6B |
Bryony Thompson gene: PDE6B was added gene: PDE6B was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa |
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| Congenital Stationary Night Blindness v0.0 | NYX |
Bryony Thompson gene: NYX was added gene: NYX was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 |
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| Congenital Stationary Night Blindness v0.0 | LRIT3 |
Bryony Thompson gene: LRIT3 was added gene: LRIT3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 |
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| Congenital Stationary Night Blindness v0.0 | GRM6 |
Bryony Thompson gene: GRM6 was added gene: GRM6 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 |
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| Congenital Stationary Night Blindness v0.0 | GRK1 |
Bryony Thompson gene: GRK1 was added gene: GRK1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411 |
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| Congenital Stationary Night Blindness v0.0 | GPR179 |
Bryony Thompson gene: GPR179 was added gene: GPR179 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 |
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| Congenital Stationary Night Blindness v0.0 | GNB3 |
Bryony Thompson gene: GNB3 was added gene: GNB3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1h |
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| Congenital Stationary Night Blindness v0.0 | GNAT1 |
Bryony Thompson gene: GNAT1 was added gene: GNAT1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444 |
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| Congenital Stationary Night Blindness v0.0 | CHM |
Bryony Thompson gene: CHM was added gene: CHM was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) |
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| Congenital Stationary Night Blindness v0.0 | CACNA2D4 |
Bryony Thompson gene: CACNA2D4 was added gene: CACNA2D4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CACNA2D4 were set to Retinal cone dystrophy 4, 610478; Congenital Stationary Night Blindness |
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| Congenital Stationary Night Blindness v0.0 | CACNA1F |
Bryony Thompson gene: CACNA1F was added gene: CACNA1F was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CACNA1F were set to Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 |
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| Congenital Stationary Night Blindness v0.0 | CABP4 |
Bryony Thompson gene: CABP4 was added gene: CABP4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 |
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| Congenital Stationary Night Blindness v0.0 | Bryony Thompson Added panel Congenital Stationary Night Blindness_RMH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||