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Childhood onset dystonia, chorea or related movement disorder v1.56 | CSTB_CCCCGCCCCGCG |
Arina Puzriakova STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.54 | TBP_CAG |
Arina Puzriakova STR: TBP_CAG was added STR: TBP_CAG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17, 607136 Review for STR: TBP_CAG was set to GREEN STR: TBP_CAG was marked as current diagnostic Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.52 | ATXN2_CAG |
Arina Puzriakova STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2, 183090 Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TW | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TV | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TT | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TS2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TS1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TR | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TQ | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TP | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TN | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TM | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TL2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TL1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TI | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TH | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TG | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TF | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TE | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TD | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TA | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-RNR2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-RNR1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND4L | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CYB | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO2 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ATP8 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TK | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TC | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND6 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND5 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND4 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND3 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ND1 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-CO3 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-ATP6 | Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | MT-TY | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.44 | MT-TW | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.43 | MT-TV | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.42 | MT-TT | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.41 | MT-TS2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.40 | MT-TS1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.39 | MT-TR | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.38 | MT-TQ | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.37 | MT-TP | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.36 | MT-TN | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.35 | MT-TM | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.34 | MT-TL2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.33 | MT-TL1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.32 | MT-TI | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.31 | MT-TH | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.30 | MT-TG | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.29 | MT-TF | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.28 | MT-TE | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.27 | MT-TD | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.26 | MT-TA | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.25 | MT-RNR2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.24 | MT-RNR1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.23 | MT-ND4L | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.22 | MT-ND2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.21 | MT-CYB | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.20 | MT-CO2 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.19 | MT-CO1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.18 | MT-ATP8 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.17 | MT-TK | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.16 | MT-TC | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.15 | MT-ND6 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.14 | MT-ND5 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.13 | MT-ND4 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.12 | MT-ND3 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.11 | MT-ND1 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.10 | MT-CO3 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.9 | MT-ATP6 | Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | ISCU |
Ellen McDonagh gene: ISCU was added gene: ISCU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ISCU was set to |