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| Dystonia, chorea or related movement disorder, childhood onset v8.7 | PRRT2 | Ida Ertmanska changed review comment from: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Additionally, cerebellar atrophy was confirmed on MRI in 2 cases. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v8.7 | PRRT2 | Ida Ertmanska Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia to PRRT2-associated paroxysmal movement disorder, MONDO:0100556; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v8.6 | PRRT2 | Ida Ertmanska Publications for gene: PRRT2 were set to 22744660; 20301334; 22399141; 22120146; 22101681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v8.5 | PRRT2 | Ida Ertmanska Tag Q3_26_MOI tag was added to gene: PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v8.5 | PRRT2 | Ida Ertmanska commented on gene: PRRT2: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Additionally, cerebellar atrophy was confirmed on MRI in 2 cases. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v8.5 | PRRT2 | Ida Ertmanska reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23126439, 25595153, 31193310, 36247910, 38316952; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066, PRRT2-associated paroxysmal movement disorder, MONDO:0100556; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset 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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| Dystonia, chorea or related movement disorder, childhood onset v0.247 | PRRT2 | Louise Daugherty Phenotypes for gene: PRRT2 were changed from CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.7 | PRRT2 |
Ellen McDonagh Source PanelApp was added to PRRT2. Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia for gene: PRRT2 Publications for gene PRRT2 were changed from to 22744660; 20301334; 22399141; 22120146; 22101681 |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | PRRT2 |
Ellen McDonagh gene: PRRT2 was added gene: PRRT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRRT2 was set to |
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