Activity
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15 actions
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| Ectodermal dysplasia v4.19 | TWIST2 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TWIST2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.19 | TWIST2 | Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.18 | TWIST2 |
Achchuthan Shanmugasundram Source NHS GMS was added to TWIST2. Source Expert Review Green was added to TWIST2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v4.4 | TWIST2 | Arina Puzriakova Classified gene: TWIST2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.4 | TWIST2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.4 | TWIST2 | Arina Puzriakova Gene: twist2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.3 | TWIST2 | Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: TWIST2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.3 | TWIST2 | Arina Puzriakova edited their review of gene: TWIST2: Changed phenotypes to: Ablepharon-macrostomia syndrome, OMIM:200110 (AD), Barber-Say syndrome, OMIM:209885 (AD), Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.3 | TWIST2 | Arina Puzriakova edited their review of gene: TWIST2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.3 | TWIST2 |
Arina Puzriakova edited their review of gene: TWIST2: Added comment: This gene is associated with multiple overlapping phenotypes which could be considered as types of ectodermal dysplasia: - Ablepharon-macrostomia syndrome, OMIM:200110 (AD) - sparse hair, redundant skin, facial dysmorphism - Barber-Say syndrome, OMIM:209885 (AD) - hypertrichosis, sparse lashes, skin hyperlaxity and redundancy, facial dysmorphism - Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR) - sparse hair, distichiasis and/or absent eyelashes, redundant skin, bitemporal skin lesions, facial dysmorphism; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Ectodermal dysplasia v4.3 | TWIST2 | Arina Puzriakova changed review comment from: Comment on mode of inheritance: TWIST2 is associated with two phenotypes which could be relevant to this panel - Ablepharon-macrostomia syndrome, OMIM:200110 (AD) and Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR). Therefore setting MOI to both mono- and biallelic.; to: Comment on mode of inheritance: TWIST2 is associated with multiple phenotypes which could be relevant to this panel - Ablepharon-macrostomia syndrome, OMIM:200110 (AD), Barber-Say syndrome, OMIM:209885 (AD) and Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR). Therefore setting MOI to both mono- and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.3 | TWIST2 | Arina Puzriakova Phenotypes for gene: TWIST2 were changed from Focal facial dermal dysplasia 3, Setleis type to Ablepharon-macrostomia syndrome, OMIM:200110 (AD); Barber-Say syndrome, OMIM:209885 (AD); Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.2 | TWIST2 | Arina Puzriakova Added comment: Comment on mode of inheritance: TWIST2 is associated with two phenotypes which could be relevant to this panel - Ablepharon-macrostomia syndrome, OMIM:200110 (AD) and Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR). Therefore setting MOI to both mono- and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.2 | TWIST2 | Arina Puzriakova Mode of inheritance for gene: TWIST2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.29 | TWIST2 |
Dmitrijs Rots gene: TWIST2 was added gene: TWIST2 was added to Ectodermal dysplasia. Sources: Expert Review Mode of inheritance for gene: TWIST2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWIST2 were set to Focal facial dermal dysplasia 3, Setleis type Review for gene: TWIST2 was set to GREEN Added comment: Included as differential for ectodermal dysplasia Sources: Expert Review |
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