| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mirror movements v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.9 | Bryony Thompson Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.8 | DNAL4 |
Bryony Thompson gene: DNAL4 was added gene: DNAL4 was added to Mirror movements. Sources: Other Mode of inheritance for gene: DNAL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAL4 were set to 25098561; 25236653 Phenotypes for gene: DNAL4 were set to Mirror movements 3 MIM#616059 Review for gene: DNAL4 was set to RED Added comment: Only a single large consanguineous Pakastani family with a homozygous variant reported. Sources: Other |
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| Mirror movements v0.7 | RAD51 | Bryony Thompson Marked gene: RAD51 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.7 | RAD51 | Bryony Thompson Gene: rad51 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.7 | RAD51 | Bryony Thompson Classified gene: RAD51 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.7 | RAD51 | Bryony Thompson Gene: rad51 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.6 | RAD51 |
Bryony Thompson gene: RAD51 was added gene: RAD51 was added to Mirror movements. Sources: Expert list Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD51 were set to 25763452; 22305526; 27830107; 24808016 Phenotypes for gene: RAD51 were set to Mirror movements 2 MIM#614508 Review for gene: RAD51 was set to GREEN gene: RAD51 was marked as current diagnostic Added comment: >3 families/probands reported with mirror movements Sources: Expert list |
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| Mirror movements v0.5 | NTN1 | Bryony Thompson Marked gene: NTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.5 | NTN1 | Bryony Thompson Gene: ntn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.5 | NTN1 | Bryony Thompson Classified gene: NTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.5 | NTN1 | Bryony Thompson Gene: ntn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.4 | NTN1 |
Bryony Thompson gene: NTN1 was added gene: NTN1 was added to Mirror movements. Sources: Expert list Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTN1 were set to 25763452; 28945198; 33472083 Phenotypes for gene: NTN1 were set to Mirror movements 4 MIM#618264 Review for gene: NTN1 was set to GREEN gene: NTN1 was marked as current diagnostic Added comment: Two unrelated families and an unrelated proband with mirror movements. Also, a mouse model recapitulates the human phenotype. Sources: Expert list |
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| Mirror movements v0.3 | DCC | Bryony Thompson Classified gene: DCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.3 | DCC | Bryony Thompson Gene: dcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.2 | DCC |
Bryony Thompson gene: DCC was added gene: DCC was added to Mirror movements. Sources: Expert list Mode of inheritance for gene: DCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCC were set to 20431009; 25763452; 28250454 Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum MIM#157600 Review for gene: DCC was set to GREEN gene: DCC was marked as current diagnostic Added comment: Well-established and most common cause of congenital mirror movements. >20 cases reported. Sources: Expert list |
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| Mirror movements v0.1 |
Bryony Thompson Panel name changed from Osteoporosis to Mirror movements Panel status changed from deleted to internal |
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| Mirror movements v0.0 | Bryony Thompson Panel deleted | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mirror movements v0.0 |
Bryony Thompson Added Panel Osteoporosis Set panel types to: Royal Melbourne Hospital; Rare Disease |
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