Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Structural eye disease v3.79 RHOA Arina Puzriakova Tag Q4_23_promote_green was removed from gene: RHOA.
Tag Q4_23_NHS_review was removed from gene: RHOA.
Structural eye disease v3.79 RHOA Arina Puzriakova reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v3.78 RHOA Arina Puzriakova Source NHS GMS was added to RHOA.
Source Expert Review Green was added to RHOA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.56 RHOA Sarah Leigh Tag watchlist was removed from gene: RHOA.
Tag mosaicism tag was added to gene: RHOA.
Tag Q4_23_promote_green tag was added to gene: RHOA.
Tag Q4_23_NHS_review tag was added to gene: RHOA.
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 v3.56 RHOA Sarah Leigh Classified gene: RHOA as Amber List (moderate evidence)
Structural eye disease v3.56 RHOA Sarah Leigh Gene: rhoa has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.55 RHOA Sarah Leigh Publications for gene: RHOA were set to 31821646; 31570889
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 v1.54 WNT2B Ivone Leong Phenotypes for gene: WNT2B were changed from 29909964; 33526876 to Diarrhoea 9, OMIM:618168; microcornea; coloboma, MONDO:0001476
Structural eye disease v1.53 WNT2B Ivone Leong edited their review of gene: WNT2B: Changed publications: 29909964, 33526876; Changed phenotypes: Diarrhoea 9, OMIM:618168, microcornea, coloboma, MONDO:0001476
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
Structural eye disease v1.34 RHOA Ivone Leong Classified gene: RHOA as Amber List (moderate evidence)
Structural eye disease v1.34 RHOA Ivone Leong Gene: rhoa has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.33 RHOA Ivone Leong Tag watchlist tag was added to gene: RHOA.
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
Structural eye disease v0.76 RHO Nicola Ragge reviewed gene: RHO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, Night blindness, congenital stationary, autosomal dominant 1, , 613731, 610445, 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.48 RHO Ivone Leong edited their review of gene: RHO: Changed phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, 613731, Night blindness, congenital stationary, autosomal dominant 1, 610445, Fundus albipunctatus, 136880
Structural eye disease v0.38 RHO Ivone Leong reviewed gene: RHO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 7, 603649; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.15 RHO Ivone Leong Source NHS GMS was added to RHO.
Mode of inheritance for gene RHO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Fundus albipunctatus, 136880; Night blindness, congenital stationary, autosomal dominant 1, 610445 for gene: RHO
Structural eye disease v0.2 RHO Ellen McDonagh gene: RHO was added
gene: RHO was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RHO was set to
Phenotypes for gene: RHO were set to Eye Disorders