Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | ARHGAP35 |
Hannah Knight gene: ARHGAP35 was added gene: ARHGAP35 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to 36450800 Phenotypes for gene: ARHGAP35 were set to Anophthalmia; microphthalmia; coloboma Review for gene: ARHGAP35 was set to GREEN Added comment: Novel damaging variants in ARHGAP35 were identified in five individuals with developmental ocular disorders from four families Family 1 - father and daughter with microphthalmia. c.4251delC p.(Thr1418Argfs*381) shared by both affected individuals. This variant was not present in five unaffected family members: mother, brother, paternal grandmother, and two paternal aunts Family 2 - simplex case of a boy with corneal opacity with cataract, iris hypoplasia, and glaucoma treated with keratoprostheses. De novo variant identified c.4444delC p.(Gln1482Serfs*317) Family 3 - simplex case of a boy with bilateral microphthalmia. De novo variant identified c.1849C > T p.(Arg617Ter) Family 4 - adult male patient with bilateral anophthalmia. Trio exome sequencing identified a novel variant in ARHGAP35, c.4294 T > C p.(Cys1432Arg), inherited from the father, who did not have a MAC phenotype but was reported to wear glasses from a young age with no further details available. Labelled as a VUS Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | VSX1 | Nicola Ragge reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 15051220; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, Keratoconus 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, 122000, 148300, 614195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | KERA | Nicola Ragge reviewed gene: KERA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornea plana congenita, recessive, 217300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | PAX6 | Nicola Ragge reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12552561, 11826019, 11553050, 17406642, 7666404, 17595013, 8111379, 7550230, 7951315, 9931324, 1302030, 19876904, 17148041; Phenotypes: Anophthalmia, Gillespie syndrome, 206700, Cataract with late-onset corneal dystrohpy, 106210, ?Morning glory disc anomaly, 120430, Aniridia, 106210, Peters anomaly, 604229, Coloboma of optic nerve, 120430, Aniridia 106210, Foveal hypoplasia 1, 136520, Keratitis, 148190, Optic nerve hypoplasia, 165550, Coloboma, ocular, 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | VSX1 | Ivone Leong edited their review of gene: VSX1: Changed phenotypes: Corneal dystrophy, posterior polymorphous, 1, Keratoconus 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, 122000, 148300, 614195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | KERA | Ivone Leong edited their review of gene: KERA: Changed phenotypes: Cornea plana congenita, recessive, 217300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | VIM | Ivone Leong reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, 122000, Keratoconus 1, 148300, Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | KERA | Ivone Leong reviewed gene: KERA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 1 (can include coloboma), 147920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PAX6 | Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12552561, 11826019, 11553050, 17406642, 7666404, 17595013, 8111379, 7550230, 7951315, 9931324, 1302030, 19876904, 17148041; Phenotypes: Anophthalmia, Gillespie syndrome, 206700, Cataract with late-onset corneal dystrohpy, 106210, ?Morning glory disc anomaly, 120430, Aniridia, 106210, Peters anomaly, 604229, Coloboma of optic nerve, 120430, Aniridia 106210, Foveal hypoplasia 1, 136520, Keratitis, 148190, Optic nerve hypoplasia, 165550, Coloboma, ocular, 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.19 | PAX6 | Ivone Leong Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 to Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PAX6 |
Ivone Leong Source NHS GMS was added to PAX6. Mode of pathogenicity for gene PAX6 was changed from to Other - please provide details in the comments Added phenotypes Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 for gene: PAX6 Publications for gene PAX6 were changed from 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041 to 17406642; 11826019; 1302030; 19876904; 17148041; 8111379; 9931324; 7666404; 17595013; 12552561; 7951315; 11553050; 7550230 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | VSX1 |
Ivone Leong gene: VSX1 was added gene: VSX1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VSX1 were set to 15051220 Phenotypes for gene: VSX1 were set to Keratoconus 1, 148300; Corneal dystrophy, posterior polymorphous, 1, 122000; Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | KERA |
Ivone Leong gene: KERA was added gene: KERA was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KERA were set to Cornea plana congenita, recessive, 217300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | PAX6 |
Ellen McDonagh gene: PAX6 was added gene: PAX6 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX6 were set to 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041 Phenotypes for gene: PAX6 were set to Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||