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| Structural eye disease v3.56 | RHOA | Sarah Leigh changed review comment from: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).; to: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.56 | RHOA | Sarah Leigh edited their review of gene: RHOA: Added comment: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | RHOA | Hannah Knight reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35178721; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | BRPF1 | Nicola Ragge reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33418956, 31176769; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.98 | BRPF1 |
Ivone Leong gene: BRPF1 was added gene: BRPF1 was added to Structural eye disease. Sources: Expert list Q1_22_rating tags were added to gene: BRPF1. Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRPF1 were set to 33418956; 31176769 Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333 Review for gene: BRPF1 was set to AMBER Added comment: Sources: Expert list |
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| Structural eye disease v1.76 | SMO |
Ivone Leong Tag mosaicism tag was added to gene: SMO. Tag somatic tag was added to gene: SMO. |
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| Structural eye disease v1.74 | ASPH | Ivone Leong Phenotypes for gene: ASPH were changed from ectopia lentis; facial dysmorphism; Traboulsi syndrome to Traboulsi syndrome, OMIM:601552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.73 | ASPH |
Julia Baptista gene: ASPH was added gene: ASPH was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 31274573; 24768550; 31012784 Phenotypes for gene: ASPH were set to ectopia lentis; facial dysmorphism; Traboulsi syndrome Review for gene: ASPH was set to GREEN gene: ASPH was marked as current diagnostic Added comment: Sources: Literature |
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| Structural eye disease v1.53 | WNT2B |
Ivone Leong gene: WNT2B was added gene: WNT2B was added to Structural eye disease. Sources: Literature watchlist tags were added to gene: WNT2B. Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT2B were set to 29909964; 33526876 Review for gene: WNT2B was set to AMBER Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is also present on the Intestinal failure panel (Version 1.28). Review submitted by Zornitza Stark on the Intestinal failure panel: "Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function. Borderline Green/Amber. Sources: Expert Review Zornitza Stark (Australian Genomics), 4 Jan 2021" PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD. The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients. As there are only 2 cases of patients with microcornea and coloboma this gene has been given an Amber rating. Sources: Literature |
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| Structural eye disease v1.29 | RHOA | Nicola Ragge reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: 31821646, 31570889; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.28 | RHOA |
Ivone Leong gene: RHOA was added gene: RHOA was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOA were set to 31821646; 31570889 Phenotypes for gene: RHOA were set to ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 |
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| Structural eye disease v0.95 | WDR37 |
Zerin Hyder gene: WDR37 was added gene: WDR37 was added to Structural eye disease. Sources: Other Mode of inheritance for gene: WDR37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508 Phenotypes for gene: WDR37 were set to corneal opacity; Peters anomaly; coloboma; microcornea Penetrance for gene: WDR37 were set to unknown Review for gene: WDR37 was set to AMBER Added comment: Features of WDR37 syndrome include the following: ocular anomalies such as corneal opacity/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; significant neurological impairment with structural brain defects and seizures; poor feeding; poor post-natal growth; variable skeletal, cardiac, and genitourinary defects. The probands in one paper exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia Sources: Other |
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| Structural eye disease v0.91 | SMO | Nicola Ragge edited their review of gene: SMO: Added comment: Twigg 2016: 8 individuals with somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]). 4 of the individuals present coloboma and/microphthalmia. ; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | PDE6D | Nicola Ragge reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID:24166846; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CTDP1 | Nicola Ragge reviewed gene: CTDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | SMOC1 | Nicola Ragge reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | SMO | Nicola Ragge reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | SMO | Mariya Moosajee reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Curry-Jones Syndrome, CRJS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | OLFM2 | Mariya Moosajee reviewed gene: OLFM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bilateral microphthalmia, short stature and facial dysmorphism ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | SMO | Ivone Leong Source London North GLH was added to SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | OLFM2 |
Ivone Leong Source London North GLH was added to OLFM2. Added phenotypes Bilateral microphthalmia, short stature and facial dysmorphism; No OMIM for gene: OLFM2 |
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| Structural eye disease v0.49 | PDE6D | Ivone Leong edited their review of gene: PDE6D: Changed phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CTDP1 | Ivone Leong edited their review of gene: CTDP1: Changed phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PAX3 | Ivone Leong reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYGS | Ivone Leong reviewed gene: CRYGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SMOC1 | Ivone Leong reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SMO | Ivone Leong reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SMOC1 |
Ivone Leong Source NHS GMS was added to SMOC1. Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1 Publications for gene SMOC1 were changed from to 30445150; 21194678; 21194680 |
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| Structural eye disease v0.15 | SMO |
Ivone Leong Source NHS GMS was added to SMO. Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO |
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| Structural eye disease v0.13 | PDE6D |
Ivone Leong gene: PDE6D was added gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665 |
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| Structural eye disease v0.13 | CTDP1 |
Ivone Leong gene: CTDP1 was added gene: CTDP1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataracts, facial dysmorphism, and neuropathy, 604168 |
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| Structural eye disease v0.2 | SMOC1 |
Ellen McDonagh gene: SMOC1 was added gene: SMOC1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMOC1 were set to Microphthalmia with limb anomalies, 206920 |
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| Structural eye disease v0.2 | SMO |
Ellen McDonagh gene: SMO was added gene: SMO was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMO were set to 27236920 Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic 601707 |
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