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Macular Dystrophy/Stargardt Disease v0.45 CDH3 Sangavi Sivagnanasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004398; Phenotypes: EEM syndrome MONDO:0009155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.45 SAMD7 Zornitza Stark Phenotypes for gene: SAMD7 were changed from Macular dystrophy, retinal, SAMD7-related MONDO:0031166 to Macular dystrophy with or without cone dysfunction, MIM# 620762
Macular Dystrophy/Stargardt Disease v0.44 SAMD7 Zornitza Stark reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular dystrophy with or without cone dysfunction, MIM# 620762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.44 SAMD7 Zornitza Stark Marked gene: SAMD7 as ready
Macular Dystrophy/Stargardt Disease v0.44 SAMD7 Zornitza Stark Gene: samd7 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.44 SAMD7 Zornitza Stark Classified gene: SAMD7 as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.44 SAMD7 Zornitza Stark Gene: samd7 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.43 SAMD7 Paul De Fazio gene: SAMD7 was added
gene: SAMD7 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature
Mode of inheritance for gene: SAMD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD7 were set to 38272031
Phenotypes for gene: SAMD7 were set to Macular dystrophy, retinal, SAMD7-related MONDO:0031166
Review for gene: SAMD7 was set to GREEN
gene: SAMD7 was marked as current diagnostic
Added comment: Five biallelic variants were identified in eight individuals from six families with macular dystrophy with or without cone dysfunction. Three families were consanguineous. Mean age at first presentation was 34.8 years, range 14 to 51.

Four variants affected splicing, while one missense variant impaired the repressive activity of SAMD7. All functional work was performed using in vitro assays.
Sources: Literature
Macular Dystrophy/Stargardt Disease v0.43 CDHR1 Bryony Thompson Marked gene: CDHR1 as ready
Macular Dystrophy/Stargardt Disease v0.43 CDHR1 Bryony Thompson Gene: cdhr1 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.43 CDHR1 Bryony Thompson Classified gene: CDHR1 as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.43 CDHR1 Bryony Thompson Gene: cdhr1 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.42 CDHR1 Bryony Thompson gene: CDHR1 was added
gene: CDHR1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list
Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDHR1 were set to 32681094; 31387115; 35627310
Phenotypes for gene: CDHR1 were set to Genetic macular dystrophy MONDO:0020242
Review for gene: CDHR1 was set to GREEN
gene: CDHR1 was marked as current diagnostic
Added comment: >10 individuals with late-onset macular dystrophy reported, mainly with c.783G>A (synonymous variant leading to in-frame skipping of exon 8) in the homozygous state or compound heterozygous with a second pathogenic variant in CDHR1
Sources: Expert list
Macular Dystrophy/Stargardt Disease v0.41 Zornitza Stark HPO terms changed from to Macular dystrophy, HP:0007754
List of related panels changed from to Macular dystrophy; HP:0007754
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Marked gene: CLEC3B as ready
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Tag founder tag was added to gene: CLEC3B.
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Classified gene: CLEC3B as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.39 CLEC3B Chirag Patel gene: CLEC3B was added
gene: CLEC3B was added to Macular Dystrophy/Stargardt Disease. 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, OMIM #619977
Review for gene: CLEC3B was set to GREEN
Added comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.

Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: Literature
Macular Dystrophy/Stargardt Disease v0.38 GUCA1B Zornitza Stark Marked gene: GUCA1B as ready
Macular Dystrophy/Stargardt Disease v0.38 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.38 GUCA1B Zornitza Stark Phenotypes for gene: GUCA1B were changed from Retinitis pigmentosa 48, 613827 to Retinitis pigmentosa 48, MIM#613827
Macular Dystrophy/Stargardt Disease v0.37 GUCA1B Zornitza Stark Publications for gene: GUCA1B were set to
Macular Dystrophy/Stargardt Disease v0.36 GUCA1B Zornitza Stark Mode of inheritance for gene: GUCA1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.35 GUCA1B Zornitza Stark Classified gene: GUCA1B as Amber List (moderate evidence)
Macular Dystrophy/Stargardt Disease v0.35 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.34 GUCA1B Zornitza Stark Tag founder tag was added to gene: GUCA1B.
Macular Dystrophy/Stargardt Disease v0.34 GUCA1B Zornitza Stark reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from Sorsby fundus dystrophy to Sorsby fundus dystrophy, MIM# 136900
Macular Dystrophy/Stargardt Disease v0.33 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.31 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.31 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Macular Dystrophy/Stargardt Disease v0.30 IMPG1 Zornitza Stark Marked gene: IMPG1 as ready
Macular Dystrophy/Stargardt Disease v0.30 IMPG1 Zornitza Stark Gene: impg1 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.30 IMPG1 Zornitza Stark Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200
Macular Dystrophy/Stargardt Disease v0.29 IMPG1 Zornitza Stark Publications for gene: IMPG1 were set to
Macular Dystrophy/Stargardt Disease v0.28 IMPG1 Zornitza Stark Mode of inheritance for gene: IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.27 IMPG1 Zornitza Stark reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993198, 28644393, 30589393, 30688845, 32817297; Phenotypes: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.27 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Macular dystrophy, North Carolina type, MIM#136550 to Macular dystrophy, North Carolina type, MIM#136550; Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.26 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.26 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665
Macular Dystrophy/Stargardt Disease v0.25 PRDM13 Zornitza Stark reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: 30710461; Phenotypes: Retinal dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.25 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Macular Dystrophy/Stargardt Disease v0.25 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.25 PRDM13 Zornitza Stark Tag 5'UTR tag was added to gene: PRDM13.
Macular Dystrophy/Stargardt Disease v0.24 CTNNA1 Zornitza Stark edited their review of gene: CTNNA1: Changed rating: GREEN
Macular Dystrophy/Stargardt Disease v0.24 CTNNA1 Zornitza Stark reviewed gene: CTNNA1: Rating: ; Mode of pathogenicity: None; Publications: 26691986; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.24 CFH Zornitza Stark Marked gene: CFH as ready
Macular Dystrophy/Stargardt Disease v0.24 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.24 CFH Zornitza Stark Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700 to Basal laminar drusen, 126700
Macular Dystrophy/Stargardt Disease v0.23 CFH Zornitza Stark Publications for gene: CFH were set to
Macular Dystrophy/Stargardt Disease v0.22 PRDM13 Zornitza Stark Mode of pathogenicity for gene: PRDM13 was changed from to Other
Macular Dystrophy/Stargardt Disease v0.21 PRDM13 Zornitza Stark Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.20 RBP3 Zornitza Stark Marked gene: RBP3 as ready
Macular Dystrophy/Stargardt Disease v0.20 RBP3 Zornitza Stark Gene: rbp3 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.20 RBP3 Zornitza Stark Phenotypes for gene: RBP3 were changed from ?Retinitis pigmentosa 66, 615233 to Retinitis pigmentosa 66, 615233
Macular Dystrophy/Stargardt Disease v0.19 RBP3 Zornitza Stark Publications for gene: RBP3 were set to
Macular Dystrophy/Stargardt Disease v0.18 FSCN2 Zornitza Stark Marked gene: FSCN2 as ready
Macular Dystrophy/Stargardt Disease v0.18 FSCN2 Zornitza Stark Gene: fscn2 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.18 FSCN2 Zornitza Stark Publications for gene: FSCN2 were set to
Macular Dystrophy/Stargardt Disease v0.17 PITPNM3 Zornitza Stark Marked gene: PITPNM3 as ready
Macular Dystrophy/Stargardt Disease v0.17 PITPNM3 Zornitza Stark Gene: pitpnm3 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.17 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Macular Dystrophy/Stargardt Disease v0.16 RS1 Zornitza Stark Marked gene: RS1 as ready
Macular Dystrophy/Stargardt Disease v0.16 RS1 Zornitza Stark Gene: rs1 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.16 RS1 Zornitza Stark Phenotypes for gene: RS1 were changed from Developmental macular and foveal dystrophy (males with foveal schisis) to Retinoschisis, MIM#312700; Developmental macular and foveal dystrophy (males with foveal schisis)
Macular Dystrophy/Stargardt Disease v0.15 RS1 Zornitza Stark Publications for gene: RS1 were set to
Macular Dystrophy/Stargardt Disease v0.14 RS1 Zornitza Stark Mode of inheritance for gene: RS1 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, biallelic mutations in females
Macular Dystrophy/Stargardt Disease v0.13 RS1 Zornitza Stark reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15932525, 23453514, 23847049; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Macular Dystrophy/Stargardt Disease v0.13 Bryony Thompson removed gene:ZFYVE26 from the panel
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Zornitza Stark Marked gene: TEAD1 as ready
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Bryony Thompson Classified gene: TEAD1 as Amber List (moderate evidence)
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Bryony Thompson Gene: tead1 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.11 TEAD1 Bryony Thompson gene: TEAD1 was added
gene: TEAD1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list
Mode of inheritance for gene: TEAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEAD1 were set to 15016762; 17689488; 30903741; 26091538
Phenotypes for gene: TEAD1 were set to Sveinsson chorioretinal atrophy MIM#108985
Review for gene: TEAD1 was set to AMBER
Added comment: Heterozygous missense variant identified in a large Icelandic pedigree and some supporting functional assays. Same missense reported in another family with a clinical diagnosis of circumpapillary dysgenesis of the pigment epithelium (described as a form of macular degeneration). A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Sources: Expert list
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Classified gene: PRDM13 as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Added comment: Comment on list classification: Cause of condition cannot be detected by WES
Macular Dystrophy/Stargardt Disease v0.10 PRDM13 Bryony Thompson Gene: prdm13 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson edited their review of gene: PRDM13: Changed rating: GREEN
Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson Deleted their comment
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Macular Dystrophy/Stargardt Disease v0.8 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Marked gene: HMCN1 as ready
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Gene: hmcn1 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Classified gene: HMCN1 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Gene: hmcn1 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.7 HMCN1 Bryony Thompson reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714; Phenotypes: Age-related macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.7 FSCN2 Bryony Thompson Classified gene: FSCN2 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.7 FSCN2 Bryony Thompson Gene: fscn2 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.6 FSCN2 Bryony Thompson reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.6 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.6 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.5 PITPNM3 Bryony Thompson reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.5 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Macular Dystrophy/Stargardt Disease v0.4 Bryony Thompson Panel name changed from Macular Dystrophy/Stargardt Disease_RMH to Macular Dystrophy/Stargardt Disease
Panel status changed from internal to public
Macular Dystrophy/Stargardt Disease v0.3 RBP3 Bryony Thompson Classified gene: RBP3 as Amber List (moderate evidence)
Macular Dystrophy/Stargardt Disease v0.3 RBP3 Bryony Thompson Gene: rbp3 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.2 RBP3 Bryony Thompson reviewed gene: RBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25766589, 19074801; Phenotypes: Retinitis pigmentosa 66 MIM#615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Classified gene: PRDM13 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Added comment: Comment on list classification: Not detectable with WES
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Gene: prdm13 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.1 PRDM13 Bryony Thompson reviewed gene: PRDM13: Rating: RED; Mode of pathogenicity: Other; Publications: 28973654, 26507665; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: None
Macular Dystrophy/Stargardt Disease v0.1 PRDM13 Bryony Thompson Tag SV/CNV tag was added to gene: PRDM13.
Macular Dystrophy/Stargardt Disease v0.1 CFH Bryony Thompson Classified gene: CFH as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.1 CFH Bryony Thompson Gene: cfh has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.0 CFH Bryony Thompson reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826; Phenotypes: Basal laminar drusen MIM#126700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 17377520; 22405330
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Macular Dystrophy/Stargardt Disease v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Recessive spastic paraplegia with retinal degeneration
Macular Dystrophy/Stargardt Disease v0.0 TIMP3 Bryony Thompson gene: TIMP3 was added
gene: TIMP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TIMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TIMP3 were set to Sorsby fundus dystrophy
Macular Dystrophy/Stargardt Disease v0.0 RS1 Bryony Thompson gene: RS1 was added
gene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RS1 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: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis)
Macular Dystrophy/Stargardt Disease v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Macular Dystrophy/Stargardt Disease v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPGR were set to Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020
Macular Dystrophy/Stargardt Disease v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RP1L1 were set to Occult macular dystrophy, 613587
Macular Dystrophy/Stargardt Disease v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Fundus albipunctatus; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Bothnia retinal dystrophy; Retinitis punctata albescens
Macular Dystrophy/Stargardt Disease v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712
Macular Dystrophy/Stargardt Disease v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBP3 were set to ?Retinitis pigmentosa 66, 615233
Macular Dystrophy/Stargardt Disease v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRPH2 were set to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880
Macular Dystrophy/Stargardt Disease v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657; Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051
Macular Dystrophy/Stargardt Disease v0.0 PRDM13 Bryony Thompson gene: PRDM13 was added
gene: PRDM13 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665
Phenotypes for gene: PRDM13 were set to Macular dystrophy, North Carolina type, MIM#136550
Macular Dystrophy/Stargardt Disease v0.0 OTX2 Bryony Thompson gene: OTX2 was added
gene: OTX2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to autosomal-dominant pattern dystrophy of the retinal pigment epithelium; early onset retinal dystrophy; Microphthalmia, syndromic 5, 610125
Macular Dystrophy/Stargardt Disease v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170
Macular Dystrophy/Stargardt Disease v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56; Maculopathy, IMPG2 - related
Macular Dystrophy/Stargardt Disease v0.0 IMPG1 Bryony Thompson gene: IMPG1 was added
gene: IMPG1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IMPG1 were set to Macular dystrophy, vitelliform, 4
Macular Dystrophy/Stargardt Disease v0.0 HMCN1 Bryony Thompson gene: HMCN1 was added
gene: HMCN1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HMCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMCN1 were set to Macular Degeneration
Macular Dystrophy/Stargardt Disease v0.0 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827
Macular Dystrophy/Stargardt Disease v0.0 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921
Macular Dystrophy/Stargardt Disease v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Macular Dystrophy/Stargardt Disease v0.0 EFEMP1 Bryony Thompson gene: EFEMP1 was added
gene: EFEMP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFEMP1 were set to Inherited macular dystrophy (Doyne/dominant drusen)
Macular Dystrophy/Stargardt Disease v0.0 DRAM2 Bryony Thompson gene: DRAM2 was added
gene: DRAM2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DRAM2 were set to Cone-rod dystrophy 21, MIM#616502
Macular Dystrophy/Stargardt Disease v0.0 CTNNA1 Bryony Thompson gene: CTNNA1 was added
gene: CTNNA1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNA1 were set to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
Macular Dystrophy/Stargardt Disease v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Macular Dystrophy/Stargardt Disease v0.0 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 -3; Achromatopsia-3, 262300; Stargardt Disease, Recessive
Macular Dystrophy/Stargardt Disease v0.0 CFH Bryony Thompson gene: CFH was added
gene: CFH was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFH were set to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700
Macular Dystrophy/Stargardt Disease v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Macular Dystrophy/Stargardt Disease v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Macular Dystrophy/Stargardt Disease v0.0 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant, 605670; Retinitis pigmentosa
Macular Dystrophy/Stargardt Disease v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Best macular dystrophy, 153700; Vitelliform macular dystrophy, adult-onset, 608161; Vitreoretinochoroidopathy, 193220; Bestrophinopathy, 611809; Maculopathy, bull's-eye; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Macular Dystrophy/Stargardt Disease v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Retinitis pigmentosa 19, 601718; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Macular degeneration, age-related, 2, 153800; Cone-rod dystrophy 3, 604116; Stargardt disease 1, 248200
Macular Dystrophy/Stargardt Disease v0.0 Bryony Thompson Added panel Macular Dystrophy/Stargardt Disease_RMH