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| Childhood onset dystonia, chorea or related movement disorder v4.3 | TMEM151A | Eleanor Williams Tag gene-checked tag was added to gene: TMEM151A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.3 | TMEM151A | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.3 | TMEM151A |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TMEM151A. Tag Q3_23_NHS_review was removed from gene: TMEM151A. |
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| Childhood onset dystonia, chorea or related movement disorder v4.3 | TMEM151A | Achchuthan Shanmugasundram commented on gene: TMEM151A: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.2 | TMEM151A |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM151A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: TMEM151A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD. Hence, this gene can be rated Green in the next major update.; to: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD with onset in childhood/ adolescence. Hence, this gene can be rated Green in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TMEM151A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Classified gene: TMEM151A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (more than 40 unrelated cases and supporting functional evidence) available in support of the association of this gene to PKD. Hence, this gene can be rated Green in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.21 | TMEM151A | Achchuthan Shanmugasundram Gene: tmem151a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.20 | TMEM151A | Achchuthan Shanmugasundram Phenotypes for gene: TMEM151A were changed from Episodic kinesigenic dyskinesia 3 to Episodic kinesigenic dyskinesia 3, OMIM:620245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.19 | TMEM151A | Achchuthan Shanmugasundram Publications for gene: TMEM151A were set to 34518509; 34820915; 35587630; 35707035; 35727387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A |
Achchuthan Shanmugasundram changed review comment from: PMID:34518509 - Nine individuals from three unrelated Chines families with paroxysmal kinesigenic dyskinesia (PKD) were identified with autosomal dominant variants in TMEM151A gene. In addition, 8 unrelated patients (isolated cases) with sporadic occurrence of PKD were also identified with heterozygous variants, of which three patients inherited variants from an unaffected parent, suggesting incomplete penetrance. The age of onset of symptoms ranged between 9 and 15 years. In addition, supporting mouse model and in vitro functional assays suggested loss of function as the mechanism of disease. PMID:34820915 - 29 PRRT2-negative Chinese patients from 25 families with PKD identified with 24 heterozygous variants in TMEM151A gene. The mean age of onset of symptoms was 12.93 years, with 13 patients reported with spontaneous remission of the disease around 21 years of age. PMID:35587630 - De novo missense variant in TMEM151A was identified in a French man with PKD and he presented with brief attacks of dystonia after 16 years of age. PMID:35707035 - Screening of patients with PRRT2-negative PKD and other movement disorders identified two novel variants in TMEM151A gene in two patients with PKD. PMID:35727387 - Heterozygous missense variant was identified in four affected members of a 3-generation Chinese family with PKD and the variant segregated with the disorder in the family. This gene has been associated with relevant phenotype in OMIM (MIM #620245), but not in Gene2Phenotype.; to: PMID:34518509 - Nine individuals from three unrelated Chines families with paroxysmal kinesigenic dyskinesia (PKD) were identified with autosomal dominant variants in TMEM151A gene. In addition, 8 unrelated patients (isolated cases) with sporadic occurrence of PKD were also identified with heterozygous variants, of which three patients inherited variants from an unaffected parent, suggesting incomplete penetrance. The age of onset of symptoms ranged between 9 and 15 years. In addition, supporting mouse model and in vitro functional assays suggested loss of function as the mechanism of disease. PMID:34820915 - 29 PRRT2-negative Chinese patients from 25 families with PKD identified with 24 heterozygous variants in TMEM151A gene. The mean age of onset of symptoms was 12.93 years, with 13 patients reported with spontaneous remission of the disease around 21 years of age. PMID:35587630 - De novo missense variant in TMEM151A was identified in a French man with PKD and he presented with brief attacks of dystonia after 16 years of age. PMID:35707035 - Screening of patients with PRRT2-negative PKD and other movement disorders identified two novel variants in TMEM151A gene in two patients with PKD. PMID:35727387 - Heterozygous missense variant was identified in four affected members of a 3-generation Chinese family with PKD and the variant segregated with the disorder in the family. PMID:36724570 - Three patients presenting with PKD were identified with different TMEM151A variants. This gene has been associated with relevant phenotype in OMIM (MIM #620245), but not in Gene2Phenotype. |
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| Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A | Achchuthan Shanmugasundram edited their review of gene: TMEM151A: Changed publications to: 34518509, 34820915, 35587630, 35707035, 35727387, 36724570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.18 | TMEM151A | Achchuthan Shanmugasundram Publications for gene: TMEM151A were set to (PMID: 34518509; 35707035; 36724570; 34820915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A | Achchuthan Shanmugasundram reviewed gene: TMEM151A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34518509, 34820915, 35587630, 35707035, 35727387; Phenotypes: Episodic kinesigenic dyskinesia 3, OMIM:620245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A | Lucy Jackson edited their review of gene: TMEM151A: Changed publications to: 34518509, 35707035, 36724570, 34820915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.17 | TMEM151A |
Lucy Jackson gene: TMEM151A was added gene: TMEM151A was added to Childhood onset dystonia, chorea or related movement disorder. Sources: NHS GMS Mode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM151A were set to (PMID: 34518509; 35707035; 36724570; 34820915) Phenotypes for gene: TMEM151A were set to Episodic kinesigenic dyskinesia 3 Review for gene: TMEM151A was set to GREEN Added comment: LOF variants have been shown to cause autosomal dominant Episodic kinesigenic dyskinesia 3 Sources: NHS GMS |
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