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| Childhood onset dystonia, chorea or related movement disorder v3.22 | SLC30A9 |
Achchuthan Shanmugasundram gene: SLC30A9 was added gene: SLC30A9 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A9 were set to 28334855; 34716203; 37041080 Phenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome, OMIM:617595 Review for gene: SLC30A9 was set to GREEN Added comment: PMID:28334855 - Six patients from a large multigenerational Bedouin kindred had onset of different combinations of intellectual disability, muscle weakness, oculomotor apraxia, and nephropathy in early childhood and they were identified with a homozygous variant in SLC30A9 gene (c.1047_1049delGCA; p.A350del). The age of onset of movement disorder was around 1-2 years of age. PMID:34716203 - A girl of African-American descent was identified with compound heterozygous variants in SLC30A9 gene (c.40delA & c.86_87dupCC) and was reported with a cerebrorenal syndrome. She presented around one year of age with microcephaly and global developmental delay. She also had bilateral sensorineural hearing loss and later developed dystonic movements affecting the whole body (onset was around 5-10 years of age). PMID:37041080 - Eight individuals from four unrelated families were reported with SLC30A9-related disease and they presented with intellectual disability and progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis despite phenotypic variability. The two families of British Pakistani descent harboured homozygous c.1253G>T (p.Gly418Val) variant, Egyptian Palestinian family harboured homozygous c.1049delCAG (pAla350del) variant, while family of European Australian descent had compound heterozygous variants (c.1083dup/ p.Val362Cysfs*5, and c.1413A>G/ p.Ser471=). The age of onset of movement disorder in these patients ranged from around 1-2 years to 16 years of age. This gene has been associated with relevant phenotypes in OMIM (MIM #617595), but not yet in Gene2Phenotype. Sources: Literature |
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| Childhood onset dystonia, chorea or related movement disorder v1.83 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.83 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.257 | NPC2 | Louise Daugherty commented on gene: NPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.239 | NPC1 | Louise Daugherty Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1; Niemann-Pick disease, type D to Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.85 | NPC1 | Ellen McDonagh Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1; Niemann-Pick disease, type D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.84 | NPC1 | Ellen McDonagh Mode of inheritance for gene: NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.16 | PCDH12 | Ellen McDonagh Classified gene: PCDH12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.16 | PCDH12 | Ellen McDonagh Gene: pcdh12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | PCCB |
Ellen McDonagh Source PanelApp was added to PCCB. Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Propionicacidemia 606054 for gene: PCCB |
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | PCCA |
Ellen McDonagh Source PanelApp was added to PCCA. Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Propionicacidemia 606054 for gene: PCCA Publications for gene PCCA were changed from to 6790853; 15235904 |
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | HPCA |
Ellen McDonagh Source PanelApp was added to HPCA. Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes adolescence-onset segmental dystonia; generalized dystonia with additional neurological features; Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia for gene: HPCA Publications for gene HPCA were changed from to 25799108; 30145809 |
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| Childhood onset dystonia, chorea or related movement disorder v0.1 | PCDH12 |
Ellen McDonagh gene: PCDH12 was added gene: PCDH12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH12 were set to perithalamic hyperechogenicity; midbrain abnormalities; microcephaly; hypothalamic abnormalities; intellectual disability; periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280; epilepsy |
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| Childhood onset dystonia, chorea or related movement disorder v0.1 | NPC2 |
Ellen McDonagh Source South West GLH was added to NPC2. Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | WDPCP |
Ellen McDonagh gene: WDPCP was added gene: WDPCP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: WDPCP was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PMPCA was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCSK9 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PCK1 |
Ellen McDonagh gene: PCK1 was added gene: PCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCK1 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PCBD1 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PC |
Ellen McDonagh gene: PC was added gene: PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PC was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: LIPC was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | G6PC3 |
Ellen McDonagh gene: G6PC3 was added gene: G6PC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: G6PC3 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | G6PC |
Ellen McDonagh gene: G6PC was added gene: G6PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: G6PC was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PCCB was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PCCA was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NPC2 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NPC1 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | HPCA |
Ellen McDonagh gene: HPCA was added gene: HPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HPCA was set to |
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