Activity
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30 actions
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| Early-onset Parkinson disease v0.295 | PTRHD1 | Zornitza Stark Phenotypes for gene: PTRHD1 were changed from early-onset parkinsonism; intellectual disability to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.294 | PTRHD1 | Zornitza Stark reviewed gene: PTRHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.201 | DHDDS | Zornitza Stark Marked gene: DHDDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.201 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.201 | DHDDS | Zornitza Stark Phenotypes for gene: DHDDS were changed from Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836 to Developmental delay and seizures with or without movement abnormalities, MIM# 617836; Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.200 | DHDDS | Zornitza Stark Publications for gene: DHDDS were set to PMID: 34837344, 29100083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.199 | DHDDS | Zornitza Stark Classified gene: DHDDS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.199 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.198 | DHDDS | Zornitza Stark reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 34837344; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM# 617836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.158 | SOX6 | Zornitza Stark Phenotypes for gene: SOX6 were changed from Tolchin-Le Caignec syndrome; Developmental delay; ID; ASD; ADHD; Parkinsonism; Syringomyelia, OMIM 618971 to Tolchin-Le Caignec syndrome, MIM# 618971; Developmental delay; ID; ASD; ADHD; Parkinsonism; Syringomyelia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.134 | DHDDS |
SHEKEEB MOHAMMAD gene: DHDDS was added gene: DHDDS was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to PMID: 34837344, 29100083 Phenotypes for gene: DHDDS were set to Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836 Review for gene: DHDDS was set to GREEN Added comment: Sources: Literature |
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| Early-onset Parkinson disease v0.134 | JPH3 |
SHEKEEB MOHAMMAD gene: JPH3 was added gene: JPH3 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JPH3 were set to PMID: 28131164 Phenotypes for gene: JPH3 were set to Huntington Disease Like 2 (HDL2); Parkinsonism; Severe Dementia; OMIM 606438 Review for gene: JPH3 was set to GREEN Added comment: Sources: Literature |
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| Early-onset Parkinson disease v0.134 | SOX6 |
SHEKEEB MOHAMMAD gene: SOX6 was added gene: SOX6 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX6 were set to PMID: 24453155, 25127144 Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome; Developmental delay; ID; ASD; ADHD; Parkinsonism; Syringomyelia, OMIM 618971 Review for gene: SOX6 was set to GREEN Added comment: Sources: Literature |
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| Early-onset Parkinson disease v0.41 | HD | Bryony Thompson Classified STR: HD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.41 | HD | Bryony Thompson Str: hd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.40 | HD |
Bryony Thompson STR: HD was added STR: HD was added to Early-onset Parkinson disease. Sources: Expert list STR tags were added to STR: HD. Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HD were set to 20301482; 29325606 Phenotypes for STR: HD were set to Huntington disease MIM#143100 Review for STR: HD was set to GREEN STR: HD was marked as clinically relevant Added comment: NM_002111.8:c.52_54CAG[X] Primary mechanism of disease is gain of function Normal: ≤26 repeats Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span Sources: Expert list |
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| Early-onset Parkinson disease v0.39 | Bryony Thompson removed STR:HD from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.38 | HD | Bryony Thompson Classified STR: HD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.38 | HD | Bryony Thompson Str: hd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.37 | HD |
Bryony Thompson STR: HD was added STR: HD was added to Early-onset Parkinson disease. Sources: Expert list STR tags were added to STR: HD. Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HD were set to 20301482; 29325606 Phenotypes for STR: HD were set to Huntington disease MIM#143100 Review for STR: HD was set to GREEN STR: HD was marked as clinically relevant Added comment: NM_002111.8:c.52_54CAG[X] Primary mechanism of disease is gain of function Normal: ≤26 repeats Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span Sources: Expert list |
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| Early-onset Parkinson disease v0.22 | PTRHD1 | Bryony Thompson Marked gene: PTRHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.22 | PTRHD1 | Bryony Thompson Gene: ptrhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.22 | PTRHD1 | Bryony Thompson Classified gene: PTRHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.22 | PTRHD1 | Bryony Thompson Gene: ptrhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.21 | PTRHD1 |
Bryony Thompson gene: PTRHD1 was added gene: PTRHD1 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRHD1 were set to 27753167; 27134041; 30398675; 29143421 Phenotypes for gene: PTRHD1 were set to early-onset parkinsonism; intellectual disability Review for gene: PTRHD1 was set to GREEN Added comment: Homozygous variants segregate in three unrelated families from Iran and South Africa. No functional assays conducted. Sources: Expert list |
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| Early-onset Parkinson disease v0.12 | CHCHD2 | Bryony Thompson edited their review of gene: CHCHD2: Changed publications: 32068847, 25662902, 31600778, 26705026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.12 | CHCHD2 | Bryony Thompson Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.11 | CHCHD2 | Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.11 | CHCHD2 | Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.10 | CHCHD2 |
Bryony Thompson gene: CHCHD2 was added gene: CHCHD2 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710 Review for gene: CHCHD2 was set to GREEN Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. Sources: Expert list |
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