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Childhood onset dystonia, chorea or related movement disorder v4.3 TSPOAP1 Achchuthan Shanmugasundram reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 OCLN Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v4.3 DNAJC6 Achchuthan Shanmugasundram reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ASL Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ARX Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset dystonia, chorea or related movement disorder v4.3 AFG3L2 Achchuthan Shanmugasundram reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v3.74 PRNP Arina Puzriakova changed review comment from: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group.; to: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene is almost always in adulthood and poses risk of incidental findings, inclusion of PRNP on this panel should be reviewed by the GMS specialist group.
Childhood onset dystonia, chorea or related movement disorder v3.74 PRNP Arina Puzriakova Added comment: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group.
Childhood onset dystonia, chorea or related movement disorder v3.72 PRNP Arina Puzriakova Publications for gene: PRNP were set to
Childhood onset dystonia, chorea or related movement disorder v3.71 PRNP Arina Puzriakova reviewed gene: PRNP: Rating: ; Mode of pathogenicity: None; Publications: 16831973; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v3.71 HSD17B10 Arina Puzriakova Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308; 12872843; 12555940
Childhood onset dystonia, chorea or related movement disorder v3.70 HSD17B10 Arina Puzriakova changed review comment from: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 31654490); to: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 27295195; 31654490)
Childhood onset dystonia, chorea or related movement disorder v3.70 HSD17B10 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 31654490)
Childhood onset dystonia, chorea or related movement disorder v3.69 HSD17B10 Arina Puzriakova Publications for gene: HSD17B10 were set to
Childhood onset dystonia, chorea or related movement disorder v3.68 HSD17B10 Arina Puzriakova reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19706438, 22132097, 12696021, 26950678, 27604308, 12872843, 12555940; Phenotypes: HSD10 mitochondrial disease, OMIM:300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset dystonia, chorea or related movement disorder v3.66 ACBD6 Arina Puzriakova gene: ACBD6 was added
gene: ACBD6 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Expert Review Amber
Q1_24_promote_green tags were added to gene: ACBD6.
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: ACBD6 were set to Complete
Childhood onset dystonia, chorea or related movement disorder v3.65 ASL Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber, with a recommendation of green rating subject to GMS review. 6 patients with tremor and/or dystonia and variants identified in the ASL gene (from PMID: 38044746 - Gurung et al 2023 and PMID: 28251416 - Baruteau et al 2017).
Childhood onset dystonia, chorea or related movement disorder v3.62 ASL Eleanor Williams Publications for gene: ASL were set to
Childhood onset dystonia, chorea or related movement disorder v3.61 ASL Eleanor Williams reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 12384776, 17326097, 29326055, 38044746, 28251416; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.61 SHQ1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v3.60 SHQ1 Sarah Leigh reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v3.60 SHQ1 Sarah Leigh Publications for gene: SHQ1 were set to 34542157; 29178645; 36810590; 36847845; 36416405; 37475611
Childhood onset dystonia, chorea or related movement disorder v3.59 SHQ1 Sarah Leigh Publications for gene: SHQ1 were set to 34542157; 29178645
Childhood onset dystonia, chorea or related movement disorder v3.56 ASL Nour Elkhateeb reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: 38044746, 36994644, 28251416; Phenotypes: Movement disorder, tremor, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.53 ARX Sarah Leigh reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 31324350, 29778428, 23657928, 29343471; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v3.52 ARX Sarah Leigh Publications for gene: ARX were set to
Childhood onset dystonia, chorea or related movement disorder v3.51 FOXG1 Arina Puzriakova Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Eleanor Williams changed review comment from: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark.; to: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark. Adding the gene-checked tag.
Childhood onset dystonia, chorea or related movement disorder v3.50 NUP54 Sarah Leigh reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.50 COX20 Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Sarah Leigh reviewed gene: ARFGEF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v3.50 ADAR Sarah Leigh reviewed gene: ADAR: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.48 PDGFB Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.; Changed rating: GREEN
Childhood onset dystonia, chorea or related movement disorder v3.48 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, OMIM:615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
Childhood onset dystonia, chorea or related movement disorder v3.47 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140; 35747618
Childhood onset dystonia, chorea or related movement disorder v3.46 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140
Childhood onset dystonia, chorea or related movement disorder v3.45 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Childhood onset dystonia, chorea or related movement disorder v3.44 PDGFB Sarah Leigh Added comment: Comment on publications: ;23913003;30952898;30609140
Childhood onset dystonia, chorea or related movement disorder v3.44 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893
Childhood onset dystonia, chorea or related movement disorder v3.43 OCLN Sarah Leigh edited their review of gene: OCLN: Added comment: It would appear that there are no published reports of dystonia, chorea or related movement disorder in cases carrying OCLN variants (PMID:20727516;34704946;34573918;28386946).; Changed rating: RED; Changed publications to: 20727516, 34704946, 34573918, 28386946
Childhood onset dystonia, chorea or related movement disorder v3.43 OCLN Sarah Leigh Added comment: Comment on list classification: To date, there are no reports of dystonia, chorea or other movement disorders associated with OCLN variants (PMID: 20727516;34704946;34573918;28386946). Therefore this gene should not be green on this panel.
Childhood onset dystonia, chorea or related movement disorder v3.42 KCNQ2 Sarah Leigh Added comment: Comment on list classification: There is only one case (PMID:12742592), of dystonia in a patient carrying a KCNQ2 variant. To date, there are no reports of relevant chorea or other movement disorders associated with KCNQ2 variants (PMID: 22275249;22926866;23621294;31418850;35780567;33794528). Therefore this gene should not be green on this panel.
Childhood onset dystonia, chorea or related movement disorder v3.41 KCNQ2 Sarah Leigh reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v3.41 KCNQ2 Sarah Leigh Publications for gene: KCNQ2 were set to 12742592
Childhood onset dystonia, chorea or related movement disorder v3.39 KCNQ2 Sarah Leigh Publications for gene: KCNQ2 were set to
Childhood onset dystonia, chorea or related movement disorder v3.38 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated children with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.38 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.37 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Childhood onset dystonia, chorea or related movement disorder v3.36 SLC18A2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (at least four unrelated cases and functional evidence) available for the association of this gene to movement disorders including dystonia. Hence, this gene can be promoted to green rating at the next GMS review.
Childhood onset dystonia, chorea or related movement disorder v3.34 SLC18A2 Achchuthan Shanmugasundram Publications for gene: SLC18A2 were set to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308
Childhood onset dystonia, chorea or related movement disorder v3.33 SLC18A2 Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473, 26497564, 31240161, 34078222; Phenotypes: ?Parkinsonism-dystonia, infantile, 2, OMIM:618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.33 TBC1D24 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases reported with dystonia as a feature of the overall phenotype. Hence, this gene can be promoted to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.31 TBC1D24 Achchuthan Shanmugasundram Publications for gene: TBC1D24 were set to 31257402
Childhood onset dystonia, chorea or related movement disorder v3.30 TBC1D24 Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21087195, 23343562, 31257402; Phenotypes: Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105, Developmental and epileptic encephalopathy 16, OMIM:615338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.30 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.30 SYT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.29 SYT1 Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, OMIM:618218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v3.29 SQSTM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated families) available for promoting this gene to green rating at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.27 SQSTM1 Achchuthan Shanmugasundram reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.27 L2HGDH Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the condition and hence this gene can be promoted to green rating in the next GMS review.
Childhood onset dystonia, chorea or related movement disorder v3.24 L2HGDH Achchuthan Shanmugasundram Publications for gene: L2HGDH were set to
Childhood onset dystonia, chorea or related movement disorder v3.23 L2HGDH Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15824270, 18780161, 24753671; Phenotypes: L-2-hydroxyglutaric aciduria, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.23 SLC30A9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with childhood onset dystonia or choreoathetosis reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
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
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 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 v3.19 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 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
Childhood onset dystonia, chorea or related movement disorder v3.16 DNAJC6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v3.15 DNAJC6 Sarah Leigh Publications for gene: DNAJC6 were set to 34175496
Childhood onset dystonia, chorea or related movement disorder v3.13 DNAJC6 Sarah Leigh reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v3.12 TSPOAP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v3.11 NUP54 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for rating this gene as GREEN in the next GMS review.
Childhood onset dystonia, chorea or related movement disorder v3.10 NUP54 Achchuthan Shanmugasundram gene: NUP54 was added
gene: NUP54 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to 36333996
Phenotypes for gene: NUP54 were set to Early-onset dystonia
Review for gene: NUP54 was set to GREEN
Added comment: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)).

The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia.

This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v3.9 COASY Sarah Leigh Publications for gene: COASY were set to 27021474; 24360804
Childhood onset dystonia, chorea or related movement disorder v3.8 ARFGEF3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases with monoallelic variants in this gene and with childhood-onset dystonia. Hence, this gene can be promoted to GREEN at the next major update.
Childhood onset dystonia, chorea or related movement disorder v3.6 ARFGEF3 Achchuthan Shanmugasundram reviewed gene: ARFGEF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33098801; Phenotypes: early-onset generalized dystonia, MONDO:0100016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v2.10 SPATA5L1 Eleanor Williams reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 SNORD118 Eleanor Williams reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 PNPT1 Eleanor Williams reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 NDUFA12 Eleanor Williams reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 HECW2 Eleanor Williams reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 ATP5G3 Eleanor Williams reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.10 ACER3 Eleanor Williams reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.9 FXN_GAA Eleanor Williams reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v2.6 COX20 Mafalda Gomes Publications for gene: COX20 were set to
Childhood onset dystonia, chorea or related movement disorder v2.5 COX20 Mafalda Gomes reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30656193, 33751098, 24202787; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.263 ADAR Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from biallelic only to both mono- and biallelic at the next GMS panel update.

Dystonia is an established feature of AGS6 (MIM# 615010) associated with AR variants in this gene. Overall the AD condition (dyschromatosis symmetrica hereditaria, MIM# 127400) often presents with changes in skin pigmentation as the only sign of disease. However, there have also been reports of neurologic deficits including ID, developmental regression, brain calcification, seizures and dystonia in some affected individuals, particularly with the Gly1007Arg variant (PMID: 16225627; 16817193; 19017046). Although the penetrance of extracutaneous features is reduced, there is value in testing heterozygous ADAR variants on these panels to ensure syndromic cases are not missed if not tested in the context of the skin phenotype.
Childhood onset dystonia, chorea or related movement disorder v1.259 STUB1 Sarah Leigh Publications for gene: STUB1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.258 DNAJC6 Dmitrijs Rots gene: DNAJC6 was added
gene: DNAJC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 34175496
Review for gene: DNAJC6 was set to AMBER
Added comment: Ray et al. in 34175496 summarized reported cases with DNAJC6 - 6/6 studies had childhood-onset movement disorder (mostly parkinsonism) and homozygous variant (nonsense, splice, frameshift and missense).
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.258 XK Sarah Leigh Added comment: Comment on list classification: Not appropriate for this panel, as older onset.
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Added comment: Comment on publications: 11761473;8004674;11032622;11261514;33652783;30128557;8619554
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674; 8619554
Childhood onset dystonia, chorea or related movement disorder v1.253 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Childhood onset dystonia, chorea or related movement disorder v1.250 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257
Childhood onset dystonia, chorea or related movement disorder v1.248 NDUFA12 Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.248 ATP5G3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene as Green at the next GMS panel update - at least four unrelated families with heterozygous variants primarily presenting with dystonia or related movement disorder (PMID: 34636445; 34954817); also supportive Drosophila model described.
Childhood onset dystonia, chorea or related movement disorder v1.246 XK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.244 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674
Childhood onset dystonia, chorea or related movement disorder v1.243 XK Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8619554; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.243 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557
Childhood onset dystonia, chorea or related movement disorder v1.242 XK Sarah Leigh Publications for gene: XK were set to 11761473
Childhood onset dystonia, chorea or related movement disorder v1.240 HECW2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update. Motor dysfunction is a key feature in majority of cases and of all individuals aged 5 years or older, only 7/12 could walk, although often with limited capacity. Therefore, inclusion of HECW2 on this panel could present potential diagnostic benefit.
Childhood onset dystonia, chorea or related movement disorder v1.239 HECW2 Arina Puzriakova gene: HECW2 was added
gene: HECW2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Q3_22_rating tags were added to gene: HECW2.
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HECW2 were set to 27389779; 27334371; 34321324
Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268
Review for gene: HECW2 was set to GREEN
Added comment: Acharya et al., 2022 (PMID: 34321324) released a review of 35 previously published and new unpublished cases harbouring HECW2 variants. Clinical characteristics in all individuals included ID/DD and hypotonia with or without spasticity. The review also highlighted motor coordination/movement deficits in 21/28 subjects (75%). Stereotypic movements were the most common (15) but dystonia (4) and chorea (3) are also reported.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.238 MAL Sarah Leigh reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.237 MAL Julia Baptista gene: MAL was added
gene: MAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAL were set to 35217805
Phenotypes for gene: MAL were set to developmental delay; nystagmus; progressive motor deterioration; dysmyelination
Review for gene: MAL was set to AMBER
Added comment: Single consanguineous family reported with two affected children (DD and nystagmus). New onset ataxia and cerebellar volume loss with patchy dysmyelination. Homozygous missense variant identified by exome analysis segregated with the condition. Functional data suggested that p.(Ala109Asp) severely affects protein folding of MAL, leading to mislocalization in the ER.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.235 SNORD118 Sarah Leigh edited their review of gene: SNORD118: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. Numervous variants have been reported in cases with Leukoencephalopathy, brain calcifications, and cysts (OMIM:614561), which include features of motor involvement (PMID: 33029936).; Changed rating: GREEN
Childhood onset dystonia, chorea or related movement disorder v1.235 SNORD118 Sarah Leigh Publications for gene: SNORD118 were set to 27571260
Childhood onset dystonia, chorea or related movement disorder v1.234 SNORD118 Sarah Leigh Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy, brain calcifications, and cysts MIM#614561 to Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561
Childhood onset dystonia, chorea or related movement disorder v1.233 SNORD118 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.230 HSPD1 Arina Puzriakova Publications for gene: HSPD1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.226 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to
Childhood onset dystonia, chorea or related movement disorder v1.225 PNPT1 Arina Puzriakova Publications for gene: PNPT1 were set to 23084291; 33199448
Childhood onset dystonia, chorea or related movement disorder v1.224 PNPT1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there are sufficient unrelated cases to rate this gene as Green at the next GMS review.
Childhood onset dystonia, chorea or related movement disorder v1.223 PNPT1 Arina Puzriakova Publications for gene: PNPT1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.222 PNPT1 Arina Puzriakova reviewed gene: PNPT1: Rating: ; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.219 TOR1A Arina Puzriakova Publications for gene: TOR1A were set to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570
Childhood onset dystonia, chorea or related movement disorder v1.218 TOR1A Arina Puzriakova reviewed gene: TOR1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-1, torsion, OMIM:128100, Arthrogryposis multiplex congenita 5, OMIM:618947; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.218 ACER3 Arina Puzriakova Entity copied from White matter disorders and cerebral calcification - narrow panel v1.227
Childhood onset dystonia, chorea or related movement disorder v1.218 ACER3 Arina Puzriakova gene: ACER3 was added
gene: ACER3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: ACER3.
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 32816236; 34281620
Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Childhood onset dystonia, chorea or related movement disorder v1.210 ATP5G3 Zornitza Stark gene: ATP5G3 was added
gene: ATP5G3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to 34636445; 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681
Review for gene: ATP5G3 was set to GREEN
Added comment: Note that HGNC approved gene name is ATP5MC3.

PMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity.

PMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.210 SPATA5L1 Ivone Leong gene: SPATA5L1 was added
gene: SPATA5L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature,Expert Review Amber
Q1_22_rating tags were added to gene: SPATA5L1.
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Childhood onset dystonia, chorea or related movement disorder v1.209 TARS2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.207 TARS2 Sarah Leigh Publications for gene: TARS2 were set to
Childhood onset dystonia, chorea or related movement disorder v1.205 TARS2 Sarah Leigh reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.201 HPRT1 Arina Puzriakova Publications for gene: HPRT1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.199 CLPB Arina Puzriakova Publications for gene: CLPB were set to
Childhood onset dystonia, chorea or related movement disorder v1.197 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Childhood onset dystonia, chorea or related movement disorder v1.196 NOP56 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity
Childhood onset dystonia, chorea or related movement disorder v1.192 PPP2R2B Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity
Childhood onset dystonia, chorea or related movement disorder v1.189 HTT Arina Puzriakova Publications for gene: HTT were set to
Childhood onset dystonia, chorea or related movement disorder v1.186 HTT Arina Puzriakova reviewed gene: HTT: Rating: ; Mode of pathogenicity: None; Publications: 26740508, 27329733, 33432339; Phenotypes: Lopes-Maciel-Rodan syndrome, OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.182 CSTB Arina Puzriakova reviewed gene: CSTB: Rating: ; Mode of pathogenicity: None; Publications: 26843564; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.166 DHDDS Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Childhood onset dystonia, chorea or related movement disorder v1.164 DHDDS Arina Puzriakova Publications for gene: DHDDS were set to
Childhood onset dystonia, chorea or related movement disorder v1.162 DHDDS Arina Puzriakova reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 32654954, 33798445, 34182312, 34382076, 34504728; Phenotypes: Developmental delay and seizures with or without movement abnormalities, OMIM:617836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset dystonia, chorea or related movement disorder v1.162 COL6A3 Arina Puzriakova Publications for gene: COL6A3 were set to
Childhood onset dystonia, chorea or related movement disorder v1.160 AP1S2 Arina Puzriakova Publications for gene: AP1S2 were set to 23756445; 17617514; 18428203
Childhood onset dystonia, chorea or related movement disorder v1.157 SHQ1 Zornitza Stark gene: SHQ1 was added
gene: SHQ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHQ1 were set to 34542157; 29178645
Phenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration
Review for gene: SHQ1 was set to AMBER
Added comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration.

Functional data in PMID 34542157

Rated Amber as phenotypes likely represent a continuum but currently unclear.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.157 EIF2AK2 Arina Puzriakova edited their review of gene: EIF2AK2: Added comment: A further 6 families reported (PMID:33236446; 33866603) harbouring 3 different variants in this gene (including the first homozygous case). Clinical presentation was prominent in all cases for dystonia with onset in infancy or childhood, with subsequent generalisation. Additional clinical details are limited for the family described in PMID:33866603. However, in the remaining families detailed in PMID:33236446, 3 unrelated individuals additionally developed mild ID, spasticity, and brain MRI alterations; while the other 2 families (6 individuals) only had isolated dystonia.; Changed publications to: 32197074, 33236446, 33866603
Childhood onset dystonia, chorea or related movement disorder v1.157 EIF2AK2 Arina Puzriakova Publications for gene: EIF2AK2 were set to 32197074
Childhood onset dystonia, chorea or related movement disorder v1.156 ATXN7 Dmitrijs Rots reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.156 ATXN1 Dmitrijs Rots reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.156 IMPDH2 Arina Puzriakova Publications for gene: IMPDH2 were set to 33098801
Childhood onset dystonia, chorea or related movement disorder v1.155 IMPDH2 Arina Puzriakova Added comment: Comment on list classification: This gene is not yet associated with a relevant phenotype in OMIM or G2P, but there are sufficient unrelated cases (3) presenting with signs of dystonia to rate as Green at the next GMS review. Other cases reported with motor dysfunction, and it is plausible that this may develop into dystonia later in life.
Childhood onset dystonia, chorea or related movement disorder v1.154 IMPDH2 Arina Puzriakova edited their review of gene: IMPDH2: Added comment: Kuukasjärvi et al., 2021 (PMID: 34305140) report on an additional large Finnish family (6 affected members) with a heterozygous truncating variant co-segregating with a dominantly inherited dystonia-tremor phenotype. Patient fibroblasts showed reduced IMPDH2 expression. IMPDH2 is the rate-limiting enzyme in the biosynthesis of guanine nucleotides, a dopamine synthetic pathway previously linked to childhood or adolescence-onset dystonia disorders.; Changed publications to: 33098801, 34305140
Childhood onset dystonia, chorea or related movement disorder v1.154 IMPDH2 Arina Puzriakova gene: IMPDH2 was added
gene: IMPDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: IMPDH2.
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to 33098801
Phenotypes for gene: IMPDH2 were set to Neurodevelopmental disorder with dystonia
Childhood onset dystonia, chorea or related movement disorder v1.153 CAMK4 Arina Puzriakova gene: CAMK4 was added
gene: CAMK4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Other,Expert Review Amber,Literature
Q3_21_rating tags were added to gene: CAMK4.
Mode of inheritance for gene: CAMK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK4 were set to 30262571; 33098801; 33211350
Phenotypes for gene: CAMK4 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality; Abnormality of movement; Dystonia; Ataxia; Chorea; Myoclonus
Penetrance for gene: CAMK4 were set to Complete
Mode of pathogenicity for gene: CAMK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Childhood onset dystonia, chorea or related movement disorder v1.151 GRIN1 Sarah Leigh Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072
Childhood onset dystonia, chorea or related movement disorder v1.150 GRIN1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.147 GNB1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.146 SLC16A2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Childhood onset dystonia, chorea or related movement disorder v1.145 SLC16A2 Arina Puzriakova Publications for gene: SLC16A2 were set to 31410843
Childhood onset dystonia, chorea or related movement disorder v1.144 SLC16A2 Arina Puzriakova reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20713192, 22805248, 23419639, 24170966, 25160547, 25755011, 25900139, 27212794, 31410843; Phenotypes: Allan-Herndon-Dudley syndrome, OMIM:300523; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.140 ARFGEF3 Zornitza Stark gene: ARFGEF3 was added
gene: ARFGEF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF3 were set to 33098801
Phenotypes for gene: ARFGEF3 were set to Dystonia
Review for gene: ARFGEF3 was set to GREEN
gene: ARFGEF3 was marked as current diagnostic
Added comment: 3 unrelated individuals reported with variants in this gene and dystonia:
1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)
1x stop-gain variant c.1773T>G p.Tyr591* inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)
1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated)
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.139 KIF1A Arina Puzriakova Added comment: Comment on list classification: Dystonia can be feature of NESCAV syndrome (MIM# 614255) caused by heterozygous variants in this gene. However, KIF1A is associated with multiple phenotypes that do not include dystonia, and even NESCAV syndrome is more likely to be investigated in the context of other more prominent features such as spasticity and intellectual disability, for which this gene is already Green. For this reason, classifying as Amber on this panel.
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Added comment: Comment on list classification: Reviews for C9orf72 gene on this panel from Zornitza Stark (Australian Genomics), James Polke (North Thames GLH) & Helen Brittain (Genomics England Clinical Fellow)(https://panelapp.genomicsengland.co.uk/panels/847/gene/C9orf72/#!review), together recommend a Red rating, as the phenotype associated with this variant in this gene has an adult onset and is therefore not appropriate for a childhood gene panel.
Childhood onset dystonia, chorea or related movement disorder v1.136 AFG3L2 Sarah Leigh reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.136 FXN Sarah Leigh reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.136 DMPK Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Demoted from Amber to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Childhood onset dystonia, chorea or related movement disorder v1.135 DMPK Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Childhood onset dystonia, chorea or related movement disorder v1.132 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.132 FXN_GAA Sarah Leigh Publications for STR: FXN_GAA were set to
Childhood onset dystonia, chorea or related movement disorder v1.129 VPS41 Arina Puzriakova Publications for gene: VPS41 were set to 32808683
Childhood onset dystonia, chorea or related movement disorder v1.128 VPS41 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GSM panel update.
Childhood onset dystonia, chorea or related movement disorder v1.127 VPS41 Arina Puzriakova reviewed gene: VPS41: Rating: GREEN; Mode of pathogenicity: None; Publications: 32808683, 33764426, 33851776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.126 EIF2AK2 Zornitza Stark reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33236446, 33866603; Phenotypes: Early onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.126 VPS16 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 19 unrelated families reported with progressive dystonia (both multifocal and generalised types described) in association with variants in this gene (publications updated with relevant literature). Variable age of onset ranging from 3 to 50 years.
Childhood onset dystonia, chorea or related movement disorder v1.123 VPS16 Arina Puzriakova Publications for gene: VPS16 were set to 32808683
Childhood onset dystonia, chorea or related movement disorder v1.122 FOXG1 Sarah Leigh Publications for gene: FOXG1 were set to 27029630
Childhood onset dystonia, chorea or related movement disorder v1.121 FOXG1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.119 FOXG1 Sarah Leigh Publications for gene: FOXG1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.118 FUCA1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.117 FUCA1 Sarah Leigh reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.116 FUCA1 Sarah Leigh Publications for gene: FUCA1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.114 C9orf72 Sarah Leigh reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.114 C9orf72 James Polke reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.114 CSTB Sarah Leigh reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.114 AFG3L2 Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868
Childhood onset dystonia, chorea or related movement disorder v1.113 AFG3L2 Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 1654145; 332219868
Childhood onset dystonia, chorea or related movement disorder v1.112 AFG3L2 Sarah Leigh Publications for gene: AFG3L2 were set to 22964162; 1654145332219868
Childhood onset dystonia, chorea or related movement disorder v1.111 AFG3L2 Sarah Leigh Publications for gene: AFG3L2 were set to
Childhood onset dystonia, chorea or related movement disorder v1.108 C9orf72 Sarah Leigh Publications for gene: C9orf72 were set to
Childhood onset dystonia, chorea or related movement disorder v1.107 C9orf72_GGGGCC Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.105 FXN_GAA Sarah Leigh edited their review of STR: FXN_GAA: Added comment: The FXN expansion has a well recognized association with Friedreich ataxia OMIM:229300; Changed rating: GREEN; Changed publications to: 10399865, 8596916, 33670433
Childhood onset dystonia, chorea or related movement disorder v1.105 FXN_GAA Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.103 GLRB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.102 GLRB Sarah Leigh Publications for gene: GLRB were set to 21391991; 23238346; 11929858
Childhood onset dystonia, chorea or related movement disorder v1.100 VPS41 Zornitza Stark edited their review of gene: VPS41: Added comment: PMID 33764426: Additional 9 individuals from 5 unrelated families reported.; Changed rating: GREEN; Changed publications to: 32808683, 33764426; Set current diagnostic: yes
Childhood onset dystonia, chorea or related movement disorder v1.100 UBTF Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green status at the next GMS panel update
Childhood onset dystonia, chorea or related movement disorder v1.99 UBTF Arina Puzriakova Publications for gene: UBTF were set to 28777933; 29300972
Childhood onset dystonia, chorea or related movement disorder v1.98 UBTF Arina Puzriakova reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972, 30517966, 31931739, 33026538; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.96 FITM2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.94 SCN1A Sarah Leigh edited their review of gene: SCN1A: Added comment: A non-Dravet syndrome epileptic encephalopathy phenotype associated with SCN1A variants. Eight cases carriers of p.Thr226Met shared this non-typical phenotype. This phenotype is not represented in OMIM, but they have been notified of the reporting publication (PMID 28794249), additional phenotype may be added to OMIM in the future.; Changed rating: GREEN
Childhood onset dystonia, chorea or related movement disorder v1.94 SCN1A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.93 SCN1A Sarah Leigh Publications for gene: SCN1A were set to 19332696; 16054936
Childhood onset dystonia, chorea or related movement disorder v1.92 SCN1A Dmitrijs Rots reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28794249; Phenotypes: seizures, developmental delay, dystonia, choreoathetosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.90 TSPOAP1 Zornitza Stark gene: TSPOAP1 was added
gene: TSPOAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
Review for gene: TSPOAP1 was set to GREEN
Added comment: 7 affecteds from 3 families (1 consanguineous)
2x null, 1x missense

Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted). Mouse model.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.90 IRF2BPL Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.89 IRF2BPL Sarah Leigh reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.88 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 30166628
Childhood onset dystonia, chorea or related movement disorder v1.84 MED27 Arina Puzriakova gene: MED27 was added
gene: MED27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Q2_21_rating tags were added to gene: MED27.
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Review for gene: MED27 was set to GREEN
Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), cataracts (10/15), epilepsy (9/15), and microcephaly (4/14). Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases for inclusion if phenotypes are considered to be within the scope of this panel - most individuals presented dystonic movements, but only 2 sibs experienced generalised dystonia.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.82 VPS4A Arina Puzriakova Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including childhood onset dystonia in 9/10 cases. Pathogenicity is supported by functional data.

There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Childhood onset dystonia, chorea or related movement disorder v1.81 VPS4A Arina Puzriakova gene: VPS4A was added
gene: VPS4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review
for-review tags were added to gene: VPS4A.
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186545; 33186543; 33460484
Phenotypes for gene: VPS4A were set to CIMDAG syndrome
Review for gene: VPS4A was set to GREEN
Added comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype.

- PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect.

- PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity.

- PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia
Sources: Expert Review
Childhood onset dystonia, chorea or related movement disorder v1.75 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to 10762541
Childhood onset dystonia, chorea or related movement disorder v1.74 CACNB4 Sarah Leigh reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32176688; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.74 RNU7-1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spastic dystonia was a feature in 9/16 patients (7 families) reported with biallelic variants in this gene (PMID:33230297)
Childhood onset dystonia, chorea or related movement disorder v1.73 RNU7-1 Arina Puzriakova gene: RNU7-1 was added
gene: RNU7-1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
for-review tags were added to gene: RNU7-1.
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like; Type I interferonopathy
Review for gene: RNU7-1 was set to GREEN
Added comment: Not associated with any phenotype in OMIM or Gene2Phenotype.

- PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.72 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 32096284; 32935419
Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability
Review for gene: KIF1A was set to GREEN
gene: KIF1A was marked as current diagnostic
Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.72 B9D2 Arina Puzriakova Publications for gene: B9D2 were set to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes
Childhood onset dystonia, chorea or related movement disorder v1.68 KCNMA1 Arina Puzriakova Publications for gene: KCNMA1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.64 DDC Arina Puzriakova Publications for gene: DDC were set to 27830117; 27604308; 24816252
Childhood onset dystonia, chorea or related movement disorder v1.62 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability
Review for gene: VPS41 was set to RED
Added comment: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.62 VPS16 Zornitza Stark gene: VPS16 was added
gene: VPS16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS16 were set to 32808683
Phenotypes for gene: VPS16 were set to Dystonia
Review for gene: VPS16 was set to GREEN
Added comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood.

Additional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.62 YIF1B Arina Puzriakova Added comment: Comment on list classification: There is a sufficient number of cases to rate this gene Green at the next major review.

Profound delay in motor development is part of the phenotype, as well as dystonia, spasticity and dyskinesia.
Childhood onset dystonia, chorea or related movement disorder v1.61 YIF1B Arina Puzriakova gene: YIF1B was added
gene: YIF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
for-review tags were added to gene: YIF1B.
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Review for gene: YIF1B was set to GREEN
Added comment: - PMID: 32006098 - 6 individuals (from 5 families) with biallelic YIF1B truncating variants. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder including dystonia (5/6), spasticity (6/6), dyskinesia (5/5). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichment in genes important for nervous system development and function.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 GNB1 Shekeeb Mohammad reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31034681, 27668284; Phenotypes: Myoclonus, Dystonia, Childhood onset dystonia, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.51 XK Zornitza Stark gene: XK was added
gene: XK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: XK were set to 11761473
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842
Review for gene: XK was set to GREEN
gene: XK was marked as current diagnostic
Added comment: 5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBTF were set to 28777933; 29300972
Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Mode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: UBTF was set to GREEN
gene: UBTF was marked as current diagnostic
Added comment: 7 out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D24 were set to 31257402
Phenotypes for gene: TBC1D24 were set to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105
Review for gene: TBC1D24 was set to GREEN
Added comment: Three unrelated families reported with rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC), an autosomal recessive neurologic disorder characterised by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist. Three unrelated families reported with this specific phenotype, though variants in this gene are associated with a range of other neurological disorders and may represent a spectrum of severity.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 SYT1 Zornitza Stark gene: SYT1 was added
gene: SYT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYT1 were set to 30107533
Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218
Review for gene: SYT1 was set to GREEN
gene: SYT1 was marked as current diagnostic
Added comment: 4 out of 11 individuals with a de novo variant had dystonia as a feature of the phenotype.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQSTM1 were set to 27545679
Phenotypes for gene: SQSTM1 were set to Myopathy, distal, with rimmed vacuoles , MIM#617158
Review for gene: SQSTM1 was set to GREEN
Added comment: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. None noted to have myopathy.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Review for gene: SNORD118 was set to GREEN
Added comment: At least 6 cases/families reported with dystonia as a feature of the condition.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 31410843
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523
Review for gene: SLC16A2 was set to GREEN
gene: SLC16A2 was marked as current diagnostic
Added comment: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.51 PRNP Zornitza Stark reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease-like 1, MIM# 603218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.51 SLC18A2 Zornitza Stark reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473, 31240161, 26497564; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset dystonia, chorea or related movement disorder v1.51 HNRNPH1 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - two studies report de novo variants in at least 6 unrelated cases with a movement phenotype.
Childhood onset dystonia, chorea or related movement disorder v1.50 HNRNPH1 Arina Puzriakova gene: HNRNPH1 was added
gene: HNRNPH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPH1 were set to 29938792; 32335897
Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder
Review for gene: HNRNPH1 was set to GREEN
Added comment: Probable gene for HNRNPH1-related neurodevelopmental disorder in G2P, but currently not associated with any phenotype in OMIM (last edited on 21/07/2017).

Two studies report de novo variants in 8 unrelated cases with a syndromic intellectual disability disorder. Clinical features included moderate-severe GDD/ID (7/7), abnormalities on brain MRI (8/8), ophthalmological abnormalities (7/8), short stature (6/8), and microcephaly (6/8). Movement manifestations were also observed - 3 individuals were non-ambulatory, while another 3 presented dystonia, one of whom also had ataxia, tremor, and wide‐based gait.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.49 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.49 OCLN Zornitza Stark reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 1, MIM# 251290; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.49 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753671, 18780161, 15824270, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset dystonia, chorea or related movement disorder v1.49 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: 12742592; Phenotypes: Epileptic encephalopathy, early infantile, 7 MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.49 IRF2BPL Zornitza Stark gene: IRF2BPL was added
gene: IRF2BPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BPL were set to 30057031; 30166628
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
Review for gene: IRF2BPL was set to GREEN
gene: IRF2BPL was marked as current diagnostic
Added comment: PMID: 30057031 - 7 individuals with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.

PMID: 30166628 - 11 individuals with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.49 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301328; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset dystonia, chorea or related movement disorder v1.49 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072
Phenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Review for gene: GRIN1 was set to GREEN
gene: GRIN1 was marked as current diagnostic
Added comment: Over 20 individuals reported with de novo missense variants in GRIN1 and severe neurodevelopmental phenotype, comprising ID, seizures, and a movement disorder, in particular dystonia. Two families reported with bi-allelic variants: different mechanism postulated (LOF vs affecting channel functioning or hypomorphic alleles), parents were carriers and unaffected. Movement disorder, in particular dystonia also reported in bi-allelic cases.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.49 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 27108799; 30194818; 27668284; 31034681
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, MIM# 616973
Review for gene: GNB1 was set to GREEN
gene: GNB1 was marked as current diagnostic
Added comment: Multiple reports of dystonia in this disorder. In a recent series of 18 individuals with de novo mutations, the most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.49 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 FXN Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia, MIM# 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064022; Phenotypes: Fucosidosis, MIM#230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27029630; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset dystonia, chorea or related movement disorder v1.49 FITM2 Zornitza Stark gene: FITM2 was added
gene: FITM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 28067622; 30214770; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness
Review for gene: FITM2 was set to GREEN
gene: FITM2 was marked as current diagnostic
Added comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model.
Sources: Expert list
Childhood onset dystonia, chorea or related movement disorder v1.49 CSTB Zornitza Stark reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v1.49 C9orf72 Zornitza Stark reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: 26166205, 24363131, 26187722; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.49 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.49 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586, Spastic paraplegia 9A, autosomal dominant, MIM# 601162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 22964162, 16541453; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 TIMM8A Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset dystonia, chorea or related movement disorder v1.45 COL6A3 Eleanor Williams reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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 v1.8 EIF2AK2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.7 EIF2AK2 Arina Puzriakova gene: EIF2AK2 was added
gene: EIF2AK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
for-review tags were added to gene: EIF2AK2.
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877
Review for gene: EIF2AK2 was set to GREEN
Added comment: Association with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation reported in both OMIM and G2P (probable).

PMID: 32197074 (2020) - Distinct de novo missense variants were identified in eight unrelated individuals who all share a notable phenotypic overlap of developmental delay, cognitive impairment, white matter alterations, dysarthria or lack of speech, and neurologic regression with febrile illness. Other variable features included hypotonia (7/8), hypertonia (7/8), ataxia (6/8), dystonia (5/8), tremor (3/8) and seizures (4/8). Functional data confirm reduced kinase activity compared to the wildtype protein product, and authors predict a dominant-negative effect.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v1.6 NDUFA2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least three unrelated cases presenting a movement phenotype following a period of regression.
Childhood onset dystonia, chorea or related movement disorder v1.4 NDUFA2 Arina Puzriakova reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 32154054; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.4 NGLY1 Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.4 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26004199, 32037012, 26872670; Phenotypes: Dystonia 27, MIM#616411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.3 DDC Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v0.258 TPK1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Reported in multiple families
Childhood onset dystonia, chorea or related movement disorder v0.257 GNAL Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple unrelated families
Childhood onset dystonia, chorea or related movement disorder v0.256 ACTB Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH).
Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem; to: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019.
Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem
Childhood onset dystonia, chorea or related movement disorder v0.256 ACTB Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH).
Despite the evidence in the literature not supporting a Green rating the Specialist Test Group still supported a Green rating based on limited evidence – juvenile onset dystonia, only identified in 1 family, twins, brains examined post mortem
Childhood onset dystonia, chorea or related movement disorder v0.203 CLPB Louise Daugherty Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Childhood onset dystonia, chorea or related movement disorder v0.143 CA8 Louise Daugherty Publications for gene: CA8 were set to
Childhood onset dystonia, chorea or related movement disorder v0.122 VAMP2 Louise Daugherty Publications for gene: VAMP2 were set to
Childhood onset dystonia, chorea or related movement disorder v0.119 GNAL Louise Daugherty changed review comment from: Comment on list classification: downgraded until Specialist Test Group review - need more evidence; to: Comment on list classification: downgraded until Specialist Test Group review rating in view of age of onset Average age at onset 31 years (range 7 to 54)

Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID.
Childhood onset dystonia, chorea or related movement disorder v0.119 GNAL Louise Daugherty Added comment: Comment on list classification: downgraded until Specialist Test Group review - need more evidence
Childhood onset dystonia, chorea or related movement disorder v0.114 PDGFB Louise Daugherty Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, 615483
Childhood onset dystonia, chorea or related movement disorder v0.113 OCLN Louise Daugherty Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Band-like calcification with simplified gyration and polymicrogyria, 251290
Childhood onset dystonia, chorea or related movement disorder v0.41 CLPB Ellen McDonagh Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
Childhood onset dystonia, chorea or related movement disorder v0.23 TPK1 Ellen McDonagh Added comment: Comment on list classification: Kept as Red, as only one patient reported with dystonia, and one Red review.
Childhood onset dystonia, chorea or related movement disorder v0.22 TPK1 Ellen McDonagh Publications for gene: TPK1 were set to
Childhood onset dystonia, chorea or related movement disorder v0.21 RNASEH2A Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Requires clinical input to determine whether appropriate to include and promote to Green.
Childhood onset dystonia, chorea or related movement disorder v0.20 PLP1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH).
Childhood onset dystonia, chorea or related movement disorder v0.18 AUH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Clinical input required to decide whether this is appropriate to include and to make this Green.
Childhood onset dystonia, chorea or related movement disorder v0.17 SUOX Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Green due to review from North Bristol NHS Trust (South West GLH).
Childhood onset dystonia, chorea or related movement disorder v0.16 PCDH12 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to the review from North Bristol NHS Trust (South West GLH) - ataxia/dystonia can be a feature. More evidence or clinical review required for this to be Green.
Childhood onset dystonia, chorea or related movement disorder v0.15 NKX2-1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to review by North Bristol NHS Trust (South West GLH) to suggest that this is a well described syndrome.
Childhood onset dystonia, chorea or related movement disorder v0.14 L2HGDH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Requires clinical input.
Childhood onset dystonia, chorea or related movement disorder v0.13 HPRT1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Clinical input required to promote to Green.
Childhood onset dystonia, chorea or related movement disorder v0.12 FOXG1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust.
Childhood onset dystonia, chorea or related movement disorder v0.11 ARX Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review; for further clinical review.
Childhood onset dystonia, chorea or related movement disorder v0.9 ACTB Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, as there has only been one variant reported.
Childhood onset dystonia, chorea or related movement disorder v0.8 ACTB Ellen McDonagh Publications for gene: ACTB were set to
Childhood onset dystonia, chorea or related movement disorder v0.7 WDR45 Ellen McDonagh Source PanelApp was added to WDR45.
Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes beta-propeller protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 5 300894 for gene: WDR45
Publications for gene WDR45 were changed from to 22892189; 23435086; 23176820
Childhood onset dystonia, chorea or related movement disorder v0.7 OFD1 Ellen McDonagh Source PanelApp was added to OFD1.
Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I for gene: OFD1
Publications for gene OFD1 were changed from to 22353940; 19800048
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA1 Ellen McDonagh Source PanelApp was added to NDUFA1.
Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523
Childhood onset dystonia, chorea or related movement disorder v0.7 MAOA Ellen McDonagh Source PanelApp was added to MAOA.
Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA
Publications for gene MAOA were changed from to 8211186; 27830117; 24169519
Childhood onset dystonia, chorea or related movement disorder v0.7 RAB39B Ellen McDonagh Source PanelApp was added to RAB39B.
Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Waisman syndrome 311510 for gene: RAB39B
Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471
Childhood onset dystonia, chorea or related movement disorder v0.7 BCAP31 Ellen McDonagh Source PanelApp was added to BCAP31.
Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31
Publications for gene BCAP31 were changed from to 28332767; 24011989
Childhood onset dystonia, chorea or related movement disorder v0.7 AP1S2 Ellen McDonagh Source PanelApp was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2
Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203
Childhood onset dystonia, chorea or related movement disorder v0.7 ZSWIM6 Ellen McDonagh Source PanelApp was added to ZSWIM6.
Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene ZSWIM6 was changed from to Other - please provide details in the comments
Added phenotypes Acromelic frontonasal dysostosis 603671 for gene: ZSWIM6
Publications for gene ZSWIM6 were changed from to 25105228
Childhood onset dystonia, chorea or related movement disorder v0.7 YY1 Ellen McDonagh Source PanelApp was added to YY1.
Mode of inheritance for gene YY1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Publications for gene YY1 were changed from to 28575647
Childhood onset dystonia, chorea or related movement disorder v0.7 XPR1 Ellen McDonagh Source PanelApp was added to XPR1.
Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 6 616413 for gene: XPR1
Publications for gene XPR1 were changed from to 25938945
Childhood onset dystonia, chorea or related movement disorder v0.7 TOR1A Ellen McDonagh Source PanelApp was added to TOR1A.
Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A
Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570
Childhood onset dystonia, chorea or related movement disorder v0.7 THAP1 Ellen McDonagh Source PanelApp was added to THAP1.
Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia 6, torsion, 602629; Dystonia for gene: THAP1
Publications for gene THAP1 were changed from to 20301334
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC20A2 Ellen McDonagh Source PanelApp was added to SLC20A2.
Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 1 213600; Dystonia for gene: SLC20A2
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC1A3 Ellen McDonagh Source PanelApp was added to SLC1A3.
Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 6 for gene: SLC1A3
Publications for gene SLC1A3 were changed from to 19139306; 16116111; 27829685
Childhood onset dystonia, chorea or related movement disorder v0.7 SCN8A Ellen McDonagh Source PanelApp was added to SCN8A.
Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes paroxysmal kinesigenic dyskinesias; epilepsy for gene: SCN8A
Publications for gene SCN8A were changed from to 26677014
Childhood onset dystonia, chorea or related movement disorder v0.7 SCN1A Ellen McDonagh Source PanelApp was added to SCN1A.
Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome for gene: SCN1A
Publications for gene SCN1A were changed from to 19332696; 16054936
Childhood onset dystonia, chorea or related movement disorder 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
Childhood onset dystonia, chorea or related movement disorder v0.7 PNKD Ellen McDonagh Source PanelApp was added to PNKD.
Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD
Publications for gene PNKD were changed from to 15496428; 20301334; 15262732; 15824259
Childhood onset dystonia, chorea or related movement disorder v0.7 PDGFRB Ellen McDonagh Source PanelApp was added to PDGFRB.
Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia; Basal ganglia calcification, idiopathic, 4 615007 for gene: PDGFRB
Publications for gene PDGFRB were changed from to 27984190; 23255827; 26129893; 25292412
Childhood onset dystonia, chorea or related movement disorder v0.7 PDGFB Ellen McDonagh Source PanelApp was added to PDGFB.
Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB
Publications for gene PDGFB were changed from to 26129893
Childhood onset dystonia, chorea or related movement disorder v0.7 NKX2-1 Ellen McDonagh Source PanelApp was added to NKX2-1.
Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700 for gene: NKX2-1
Publications for gene NKX2-1 were changed from to 24555207
Childhood onset dystonia, chorea or related movement disorder v0.7 KCNA1 Ellen McDonagh Source PanelApp was added to KCNA1.
Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia for gene: KCNA1
Publications for gene KCNA1 were changed from to 17575281
Childhood onset dystonia, chorea or related movement disorder v0.7 GNAL Ellen McDonagh Source PanelApp was added to GNAL.
Added phenotypes Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from to 25847575; 20301334; 24151159; 23222958; 26810727; 24535567; 27222887; 23759320; 25382112; 24408567; 26506956; 23449625; 24729450; 26725140; 26365774; 27123488; 27093447
Childhood onset dystonia, chorea or related movement disorder v0.7 FOXP2 Ellen McDonagh Source PanelApp was added to FOXP2.
Mode of inheritance for gene FOXP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Speech-language disorder-1 602081 for gene: FOXP2
Publications for gene FOXP2 were changed from to 15877281; 22434823; 11586359
Childhood onset dystonia, chorea or related movement disorder v0.7 CACNB4 Ellen McDonagh Source PanelApp was added to CACNB4.
Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 for gene: CACNB4
Publications for gene CACNB4 were changed from to 10762541
Childhood onset dystonia, chorea or related movement disorder v0.7 CACNA1A Ellen McDonagh Source PanelApp was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A
Publications for gene CACNA1A were changed from to 21734179; 17575281
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP1A3 Ellen McDonagh Source PanelApp was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Rapid-Onset Dystonia-Parkinsonism; Dystonia-12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3
Publications for gene ATP1A3 were changed from to 22850527; 22842232; 20301334
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP1A2 Ellen McDonagh Source PanelApp was added to ATP1A2.
Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290; Dystonia; migraine for gene: ATP1A2
Publications for gene ATP1A2 were changed from to 18056581; 12953268; 12539047
Childhood onset dystonia, chorea or related movement disorder v0.7 ADCY5 Ellen McDonagh Source PanelApp was added to ADCY5.
Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 for gene: ADCY5
Publications for gene ADCY5 were changed from to 11310626; 24700542
Childhood onset dystonia, chorea or related movement disorder v0.7 SGCE Ellen McDonagh Source PanelApp was added to SGCE.
Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Added phenotypes Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome for gene: SGCE
Publications for gene SGCE were changed from to 20301334; 11528394; 12325078
Childhood onset dystonia, chorea or related movement disorder v0.7 TUBB4A Ellen McDonagh Source PanelApp was added to TUBB4A.
Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A
Publications for gene TUBB4A were changed from to 27809427; 24850488; 23582646; 24526230
Childhood onset dystonia, chorea or related movement disorder v0.7 KMT2B Ellen McDonagh Source PanelApp was added to KMT2B.
Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B
Publications for gene KMT2B were changed from to 27992417
Childhood onset dystonia, chorea or related movement disorder v0.7 GNAO1 Ellen McDonagh Source PanelApp was added to GNAO1.
Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Publications for gene GNAO1 were changed from to 26060304; 27625011; 25966631; 27068059; 28357411
Childhood onset dystonia, chorea or related movement disorder v0.7 ANO3 Ellen McDonagh Source PanelApp was added to ANO3.
Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3
Publications for gene ANO3 were changed from to 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 27392807; 24442708
Childhood onset dystonia, chorea or related movement disorder v0.7 SPR Ellen McDonagh Source PanelApp was added to SPR.
Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR
Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC6A5 Ellen McDonagh Source PanelApp was added to SLC6A5.
Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Publications for gene SLC6A5 were changed from to 16751771
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC2A1 Ellen McDonagh Source PanelApp was added to SLC2A1.
Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546
Childhood onset dystonia, chorea or related movement disorder v0.7 GLRA1 Ellen McDonagh Source PanelApp was added to GLRA1.
Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia, hereditary 1, 149400 for gene: GLRA1
Publications for gene GLRA1 were changed from to 20301437
Childhood onset dystonia, chorea or related movement disorder v0.7 GCH1 Ellen McDonagh Source PanelApp was added to GCH1.
Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; GTP-cyclohydrolase deficiency for gene: GCH1
Publications for gene GCH1 were changed from to 3762960; 8163996; 7730309; 10987649; 942621; 9667588; 3822637; 7874165; 17111153; 6734669; 1899474; 945938; 3400489; 7869202; 10208576; 20301334; 27830117; 12552057; 20301681; 10732814; 12084887; 3041760; 16908750; 11346370; 11113234; 2296384; 15753436
Childhood onset dystonia, chorea or related movement disorder v0.7 VPS13A Ellen McDonagh Source PanelApp was added to VPS13A.
Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Choreoacanthocytosis 200150; complex parkinsonism for gene: VPS13A
Publications for gene VPS13A were changed from to 14663054; 11381253; 11381254
Childhood onset dystonia, chorea or related movement disorder v0.7 VAC14 Ellen McDonagh Source PanelApp was added to VAC14.
Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatonigral degeneration, childhood-onset 617054 for gene: VAC14
Publications for gene VAC14 were changed from to 17956977; 27292112; 19037259
Childhood onset dystonia, chorea or related movement disorder v0.7 TXNDC15 Ellen McDonagh Source PanelApp was added to TXNDC15.
Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15
Publications for gene TXNDC15 were changed from to 27894351
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM67 Ellen McDonagh Source PanelApp was added to TMEM67.
Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67
Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM237 Ellen McDonagh Source PanelApp was added to TMEM237.
Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 14; Joubert syndrome; Joubert syndrome with oculorenal defect for gene: TMEM237
Publications for gene TMEM237 were changed from to 20301500; 22152675
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM216 Ellen McDonagh Source PanelApp was added to TMEM216.
Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome 2; Joubert syndrome with oculorenal defect; Meckel syndrome for gene: TMEM216
Publications for gene TMEM216 were changed from to 22282472; 20512146; 20036350
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM138 Ellen McDonagh Source PanelApp was added to TMEM138.
Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 16; Joubert syndrome with oculorenal defect for gene: TMEM138
Publications for gene TMEM138 were changed from to 22282472
Childhood onset dystonia, chorea or related movement disorder v0.7 TMEM107 Ellen McDonagh Source PanelApp was added to TMEM107.
Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome XVI 617563; ?Joubert syndrome 29 617562; Meckel syndrome 13 617562 for gene: TMEM107
Publications for gene TMEM107 were changed from to 22698544; 26595381; 26123494; 26518474
Childhood onset dystonia, chorea or related movement disorder v0.7 TH Ellen McDonagh Source PanelApp was added to TH.
Mode of inheritance for gene TH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes DOPA-responsive dystonia; Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; Segawa syndrome; paediatric form of dopa responsive dystonia for gene: TH
Publications for gene TH were changed from to 27830117; 20301334; 8528210; 21937992; 9732974; 9703425; 8817341; 17696123; 7814018; 11246459; 10585338
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN3 Ellen McDonagh Source PanelApp was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber; Joubert syndrome; Joubert syndrome 18; Orofaciodigital syndrome IV; Mohr-Majewski syndrome for gene: TCTN3
Publications for gene TCTN3 were changed from to 22883145; 25118024
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN2 Ellen McDonagh Source PanelApp was added to TCTN2.
Mode of inheritance for gene TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome, Meckel-Gruber syndrome; Joubert syndrome 24 for gene: TCTN2
Publications for gene TCTN2 were changed from to 21565611; 25118024
Childhood onset dystonia, chorea or related movement disorder v0.7 TCTN1 Ellen McDonagh Source PanelApp was added to TCTN1.
Mode of inheritance for gene TCTN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome for gene: TCTN1
Publications for gene TCTN1 were changed from to 20301500; 22693042; 28631893; 21725307; 26477546; 26489806
Childhood onset dystonia, chorea or related movement disorder v0.7 SYNJ1 Ellen McDonagh Source PanelApp was added to SYNJ1.
Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 20, early-onset; juvenile Parkinsonism for gene: SYNJ1
Publications for gene SYNJ1 were changed from to 27496670; 23804577; 23804563
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC6A3 Ellen McDonagh Source PanelApp was added to SLC6A3.
Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3
Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC39A14 Ellen McDonagh Source PanelApp was added to SLC39A14.
Mode of inheritance for gene SLC39A14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Publications for gene SLC39A14 were changed from to 27231142
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC30A10 Ellen McDonagh Source PanelApp was added to SLC30A10.
Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 for gene: SLC30A10
Publications for gene SLC30A10 were changed from to 22934317; 22341972; 25778823; 22341971; 22926781
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC25A19 Ellen McDonagh Source PanelApp was added to SLC25A19.
Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 for gene: SLC25A19
Publications for gene SLC25A19 were changed from to 19798730; 12185364; 17035501
Childhood onset dystonia, chorea or related movement disorder v0.7 SLC18A2 Ellen McDonagh Source PanelApp was added to SLC18A2.
Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency for gene: SLC18A2
Publications for gene SLC18A2 were changed from to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 SERAC1 Ellen McDonagh Source PanelApp was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lesions in the basal ganglia; MEGDEL syndrome; MEGDHEL syndrome; Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Publications for gene SERAC1 were changed from to 27186703; 16527507; 28482397; 28778788; 29205472; 22683713; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 RPGRIP1L Ellen McDonagh Source PanelApp was added to RPGRIP1L.
Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260
Childhood onset dystonia, chorea or related movement disorder v0.7 QDPR Ellen McDonagh Source PanelApp was added to QDPR.
Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia for gene: QDPR
Publications for gene QDPR were changed from to 11746132; 27830117; 2785251; 16917893; 11153907; 49470; 2116088; 7627180; 317358; 53532; 27604308; 10029353
Childhood onset dystonia, chorea or related movement disorder v0.7 PTS Ellen McDonagh Source PanelApp was added to PTS.
Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 PRKRA Ellen McDonagh Source PanelApp was added to PRKRA.
Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia for gene: PRKRA
Publications for gene PRKRA were changed from to 22842711; 25737287; 20301334; 18420150; 18243799; 26990861; 25914261; 24142417; 25142429
Childhood onset dystonia, chorea or related movement disorder v0.7 PMM2 Ellen McDonagh Source PanelApp was added to PMM2.
Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2
Publications for gene PMM2 were changed from to 9140401
Childhood onset dystonia, chorea or related movement disorder v0.7 PLA2G6 Ellen McDonagh Source PanelApp was added to PLA2G6.
Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 14, autosomal recessive 612953; Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; PLA2G6-associated neurodegeneration for gene: PLA2G6
Publications for gene PLA2G6 were changed from to 16783378; 18799783; 18570303
Childhood onset dystonia, chorea or related movement disorder v0.7 PDP1 Ellen McDonagh Source PanelApp was added to PDP1.
Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 for gene: PDP1
Publications for gene PDP1 were changed from to 19184109; 15855260
Childhood onset dystonia, chorea or related movement disorder v0.7 PDE10A Ellen McDonagh Source PanelApp was added to PDE10A.
Mode of inheritance for gene PDE10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 for gene: PDE10A
Publications for gene PDE10A were changed from to 27058447; 27058446
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
Childhood onset dystonia, chorea or related movement disorder v0.7 OCLN Ellen McDonagh Source PanelApp was added to OCLN.
Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 for gene: OCLN
Publications for gene OCLN were changed from to 20727516
Childhood onset dystonia, chorea or related movement disorder v0.7 NUP62 Ellen McDonagh Source PanelApp was added to NUP62.
Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Publications for gene NUP62 were changed from to 16786527; 12374138; 14718703
Childhood onset dystonia, chorea or related movement disorder v0.7 NPHP1 Ellen McDonagh Source PanelApp was added to NPHP1.
Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 4; 609583 Nephronophthisis 1, juvenile; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; Nephronophthisis for gene: NPHP1
Publications for gene NPHP1 were changed from to 15689444; 15138899; 22982934
Childhood onset dystonia, chorea or related movement disorder v0.7 NKX6-2 Ellen McDonagh Source PanelApp was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Publications for gene NKX6-2 were changed from to 15601927; 28575651
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFV1 Ellen McDonagh Source PanelApp was added to NDUFV1.
Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, 252010 for gene: NDUFV1
Publications for gene NDUFV1 were changed from to 10080174; 26345448
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFS4 Ellen McDonagh Source PanelApp was added to NDUFS4.
Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome 256000 for gene: NDUFS4
Publications for gene NDUFS4 were changed from to 24020637
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFAF6 Ellen McDonagh Source PanelApp was added to NDUFAF6.
Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFAF6
Publications for gene NDUFAF6 were changed from to 27623250; 26741492; 18614015
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFAF2 Ellen McDonagh Source PanelApp was added to NDUFAF2.
Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Publications for gene NDUFAF2 were changed from to 16200211; 20818383; 20571988
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA9 Ellen McDonagh Source PanelApp was added to NDUFA9.
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFA9
Publications for gene NDUFA9 were changed from to 22114105
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA2 Ellen McDonagh Source PanelApp was added to NDUFA2.
Publications for gene NDUFA2 were changed from to 18513682
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA12 Ellen McDonagh Source PanelApp was added to NDUFA12.
Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 for gene: NDUFA12
Publications for gene NDUFA12 were changed from to 21617257
Childhood onset dystonia, chorea or related movement disorder v0.7 NDUFA10 Ellen McDonagh Source PanelApp was added to NDUFA10.
Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome 256000 for gene: NDUFA10
Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492
Childhood onset dystonia, chorea or related movement disorder v0.7 MKS1 Ellen McDonagh Source PanelApp was added to MKS1.
Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments
Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1
Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886
Childhood onset dystonia, chorea or related movement disorder v0.7 MECR Ellen McDonagh Source PanelApp was added to MECR.
Mode of inheritance for gene MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Childhood onset dystonia, chorea or related movement disorder v0.7 KIF7 Ellen McDonagh Source PanelApp was added to KIF7.
Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Publications for gene KIF7 were changed from to 21633164
Childhood onset dystonia, chorea or related movement disorder v0.7 KIAA0586 Ellen McDonagh Source PanelApp was added to KIAA0586.
Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome; Joubert syndrome 23; Short-rib dysplasia 14 with polydactyly for gene: KIAA0586
Publications for gene KIAA0586 were changed from to 26096313
Childhood onset dystonia, chorea or related movement disorder v0.7 ISG15 Ellen McDonagh Source PanelApp was added to ISG15.
Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 38 616126 for gene: ISG15
Publications for gene ISG15 were changed from to 22859821; 25307056
Childhood onset dystonia, chorea or related movement disorder v0.7 INPP5E Ellen McDonagh Source PanelApp was added to INPP5E.
Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Joubert syndrome 1 for gene: INPP5E
Publications for gene INPP5E were changed from to 26748598; 23386033
Childhood onset dystonia, chorea or related movement disorder v0.7 ICK Ellen McDonagh Source PanelApp was added to ICK.
Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) for gene: ICK
Publications for gene ICK were changed from to 27466187; 19185282; 27069622
Childhood onset dystonia, chorea or related movement disorder v0.7 HYLS1 Ellen McDonagh Source PanelApp was added to HYLS1.
Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Hydrolethalus syndrome, 236680 for gene: HYLS1
Publications for gene HYLS1 were changed from to 18648327 - Hydrolethalus syndrome; 19656802 - impairment in ciligenesis; 15843405 - Hydrolethalus syndrome; 26830932 - report in two siblings with Joubert syndrome
Childhood onset dystonia, chorea or related movement disorder v0.7 HTRA2 Ellen McDonagh Source PanelApp was added to HTRA2.
Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VIII 617248 for gene: HTRA2
Publications for gene HTRA2 were changed from to 27208207; 27696117
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
Childhood onset dystonia, chorea or related movement disorder v0.7 GLRB Ellen McDonagh Source PanelApp was added to GLRB.
Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB
Publications for gene GLRB were changed from to 21391991; 23238346; 11929858
Childhood onset dystonia, chorea or related movement disorder v0.7 GCDH Ellen McDonagh Source PanelApp was added to GCDH.
Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: GCDH
Publications for gene GCDH were changed from to 8900227; 11174631; 8900228; 10699052; 7795610
Childhood onset dystonia, chorea or related movement disorder v0.7 FOLR1 Ellen McDonagh Source PanelApp was added to FOLR1.
Mode of inheritance for gene FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068; Folate receptor alpha deficiency for gene: FOLR1
Publications for gene FOLR1 were changed from to 27830117; 21937992; 19732866; 2044715
Childhood onset dystonia, chorea or related movement disorder v0.7 FA2H Ellen McDonagh Source PanelApp was added to FA2H.
Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive 612319 for gene: FA2H
Publications for gene FA2H were changed from to 19068277
Childhood onset dystonia, chorea or related movement disorder v0.7 DNAJC12 Ellen McDonagh Source PanelApp was added to DNAJC12.
Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Publications for gene DNAJC12 were changed from to 28132689
Childhood onset dystonia, chorea or related movement disorder v0.7 DLAT Ellen McDonagh Source PanelApp was added to DLAT.
Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase E2 deficiency 245348; Dystonia for gene: DLAT
Publications for gene DLAT were changed from to 16049940; 19891062
Childhood onset dystonia, chorea or related movement disorder v0.7 DHFR Ellen McDonagh Source PanelApp was added to DHFR.
Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency for gene: DHFR
Publications for gene DHFR were changed from to 21310277; 27830117; 21310276; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 DHCR7 Ellen McDonagh Source PanelApp was added to DHCR7.
Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Smith-Lemli-Opitz syndrome 270400 for gene: DHCR7
Publications for gene DHCR7 were changed from to 9634533
Childhood onset dystonia, chorea or related movement disorder v0.7 DDX59 Ellen McDonagh Source PanelApp was added to DDX59.
Mode of inheritance for gene DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59
Publications for gene DDX59 were changed from to 29127725; 28711741; 23972372
Childhood onset dystonia, chorea or related movement disorder v0.7 DDC Ellen McDonagh Source PanelApp was added to DDC.
Mode of inheritance for gene DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia for gene: DDC
Publications for gene DDC were changed from to 27830117; 27604308; 24816252
Childhood onset dystonia, chorea or related movement disorder v0.7 DBH Ellen McDonagh Source PanelApp was added to DBH.
Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dopamine beta-hydroxylase deficiency, 223360 for gene: DBH
Publications for gene DBH were changed from to 27778639; 27830117; 27604308
Childhood onset dystonia, chorea or related movement disorder v0.7 CSTB Ellen McDonagh Source PanelApp was added to CSTB.
Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB
Publications for gene CSTB were changed from to 26843564
Childhood onset dystonia, chorea or related movement disorder v0.7 CSPP1 Ellen McDonagh Source PanelApp was added to CSPP1.
Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 21 for gene: CSPP1
Publications for gene CSPP1 were changed from to 24360803; 24360808; 24360807
Childhood onset dystonia, chorea or related movement disorder v0.7 CRB2 Ellen McDonagh Source PanelApp was added to CRB2.
Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ventriculomegaly with cystic kidney disease 219730 for gene: CRB2
Publications for gene CRB2 were changed from to 25557780
Childhood onset dystonia, chorea or related movement disorder v0.7 COX10 Ellen McDonagh Source PanelApp was added to COX10.
Mode of inheritance for gene COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex IV deficiency, 220110; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 for gene: COX10
Publications for gene COX10 were changed from to 10767350
Childhood onset dystonia, chorea or related movement disorder v0.7 COASY Ellen McDonagh Source PanelApp was added to COASY.
Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration with brain iron accumulation 6 615643; COASY protein-associated neurodegeneration for gene: COASY
Publications for gene COASY were changed from to 27021474; 24360804
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP41 Ellen McDonagh Source PanelApp was added to CEP41.
Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 15 for gene: CEP41
Publications for gene CEP41 were changed from to 22246503
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP290 Ellen McDonagh Source PanelApp was added to CEP290.
Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290
Publications for gene CEP290 were changed from to 18327255; 20690115
Childhood onset dystonia, chorea or related movement disorder v0.7 CEP104 Ellen McDonagh Source PanelApp was added to CEP104.
Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 25; Joubert syndrome 25, 616781 for gene: CEP104
Publications for gene CEP104 were changed from to 26477546
Childhood onset dystonia, chorea or related movement disorder v0.7 CENPF Ellen McDonagh Source PanelApp was added to CENPF.
Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome for gene: CENPF
Publications for gene CENPF were changed from to 26820108
Childhood onset dystonia, chorea or related movement disorder v0.7 C5orf42 Ellen McDonagh Source PanelApp was added to C5orf42.
Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 17; Oral-facial-digital syndrome type VI; Joubert syndrome for gene: C5orf42
Publications for gene C5orf42 were changed from to 22425360; 22693042; 25920555
Childhood onset dystonia, chorea or related movement disorder v0.7 C2CD3 Ellen McDonagh Source PanelApp was added to C2CD3.
Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; short-rib polydactyly syndromes (SRPS; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) for gene: C2CD3
Publications for gene C2CD3 were changed from to 26044959; 27094867; 24997988
Childhood onset dystonia, chorea or related movement disorder v0.7 B9D2 Ellen McDonagh Source PanelApp was added to B9D2.
Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies for gene: B9D2
Publications for gene B9D2 were changed from to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP7B Ellen McDonagh Source PanelApp was added to ATP7B.
Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Wilson disease 277900; Dystonia for gene: ATP7B
Publications for gene ATP7B were changed from to 20301685
Childhood onset dystonia, chorea or related movement disorder v0.7 ATP13A2 Ellen McDonagh Source PanelApp was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kufor-Rakeb syndrome 606693; Parkinson disease; Dystonia for gene: ATP13A2
Publications for gene ATP13A2 were changed from to 21060012
Childhood onset dystonia, chorea or related movement disorder v0.7 ARL13B Ellen McDonagh Source PanelApp was added to ARL13B.
Mode of inheritance for gene ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 8 for gene: ARL13B
Publications for gene ARL13B were changed from to 25138100; 18674751
Childhood onset dystonia, chorea or related movement disorder v0.7 ADAR Ellen McDonagh Source PanelApp was added to ADAR.
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010; dystonia for gene: ADAR
Publications for gene ADAR were changed from to 28139822; 23001123
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
Childhood onset dystonia, chorea or related movement disorder v0.0 LCAT Ellen McDonagh gene: LCAT was added
gene: LCAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LCAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 CAT Ellen McDonagh gene: CAT was added
gene: CAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CAT was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 ACAT1 Ellen McDonagh gene: ACAT1 was added
gene: ACAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAT1 was set to