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Childhood onset dystonia, chorea or related movement disorder v7.15 ADCY5 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: ADCY5.
Childhood onset dystonia, chorea or related movement disorder v7.15 ADCY5 Achchuthan Shanmugasundram commented on gene: ADCY5: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v7.14 ADCY5 Achchuthan Shanmugasundram Source NHS GMS was added to ADCY5.
Mode of inheritance for gene ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v7.10 ADCY5 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least four unrelated families reported with biallelic ADCY5 variants and with childhood-onset movement disorder.

As there is sufficient evidence available for the association of both monoallelic and biallelic ADCY5 variants with the phenotype, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Childhood onset dystonia, chorea or related movement disorder v7.10 ADCY5 Achchuthan Shanmugasundram Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v7.9 ADCY5 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: ADCY5.
Childhood onset dystonia, chorea or related movement disorder v7.9 ADCY5 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 04 October 2025.
Childhood onset dystonia, chorea or related movement disorder v7.9 ADCY5 Achchuthan Shanmugasundram Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia, 606703 to Dyskinesia with orofacial involvement, autosomal dominant, OMIM:606703; dyskinesia with orofacial involvement, autosomal dominant, MONDO:0800028; Dyskinesia with orofacial involvement, autosomal recessive, OMIM:619647; dyskinesia with orofacial involvement, autosomal recessive, MONDO:0030625; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651; neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
Childhood onset dystonia, chorea or related movement disorder v7.8 ADCY5 Achchuthan Shanmugasundram Publications for gene: ADCY5 were set to 11310626; 24700542
Childhood onset dystonia, chorea or related movement disorder v7.7 ADCY5 Achchuthan Shanmugasundram changed review comment from: As previously reported, monoallelic variants in ADCY5 gene are associated with familial dyskinesia with facial myokymia (FDFM), which is an autosomal dominant movement disorder characterised by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles. There are multiple families reported with this phenotype (MIM #606703).

As reviewed by Cassandra Smith, biallelic variants in ADCY5 gene are now associated with disease phenotypes (MIMs #619647 & #619651).

Autosomal recessive dyskinesia with orofacial involvement (MIM #619647) is characterised by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. Eight patients from two different families were reported with this phenotype. They were identified with either compound heterozygous (p.Gly137Cysfs*184 & p.Arg1013Cys) or homozygous variants (p.Asp588Asn) in ADCY5 gene.

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (MIM #619651) is an autosomal recessive complex neurological disorder characterised by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. There are five patients from two different families reported with this phenotype and they were identified with homozygous variants (p.Arg1238Trp & c.897+1G>T).; to: As previously reported, monoallelic variants in ADCY5 gene are associated with familial dyskinesia with facial myokymia (FDFM), which is an autosomal dominant movement disorder characterised by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles. There are multiple families reported with this phenotype (MIM #606703).

As reviewed by Cassandra Smith, biallelic variants in ADCY5 gene are now associated with disease phenotypes (MIMs #619647 & #619651).

Autosomal recessive dyskinesia with orofacial involvement (MIM #619647) is characterised by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. Eight patients from two different families were reported with this phenotype. They were identified with either compound heterozygous (p.Gly137Cysfs*184 & p.Arg1013Cys) or homozygous variants (p.Asp588Asn) in ADCY5 gene.

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (MIM #619651) is an autosomal recessive complex neurological disorder characterised by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. There are five patients from two different families reported with this phenotype and they were identified with homozygous variants (p.Arg1238Trp & c.897+1G>T).
Childhood onset dystonia, chorea or related movement disorder v7.7 ADCY5 Achchuthan Shanmugasundram edited their review of gene: ADCY5: Changed publications to: 28971144, 30975617, 33704598, 34631954
Childhood onset dystonia, chorea or related movement disorder v7.7 ADCY5 Achchuthan Shanmugasundram commented on gene: ADCY5: As previously reported, monoallelic variants in ADCY5 gene are associated with familial dyskinesia with facial myokymia (FDFM), which is an autosomal dominant movement disorder characterised by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles. There are multiple families reported with this phenotype (MIM #606703).

As reviewed by Cassandra Smith, biallelic variants in ADCY5 gene are now associated with disease phenotypes (MIMs #619647 & #619651).

Autosomal recessive dyskinesia with orofacial involvement (MIM #619647) is characterised by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. Eight patients from two different families were reported with this phenotype. They were identified with either compound heterozygous (p.Gly137Cysfs*184 & p.Arg1013Cys) or homozygous variants (p.Asp588Asn) in ADCY5 gene.

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (MIM #619651) is an autosomal recessive complex neurological disorder characterised by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. There are five patients from two different families reported with this phenotype and they were identified with homozygous variants (p.Arg1238Trp & c.897+1G>T).
Childhood onset dystonia, chorea or related movement disorder v7.7 ADCY5 Achchuthan Shanmugasundram reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia with orofacial involvement, autosomal dominant, OMIM:606703, dyskinesia with orofacial involvement, autosomal dominant, MONDO:0800028, Dyskinesia with orofacial involvement, autosomal recessive, OMIM:619647, dyskinesia with orofacial involvement, autosomal recessive, MONDO:0030625, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651, neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v7.3 ADCY5 Cassandra Smith reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28971144, 30975617, 34631954, 33704598; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v0.111 ADCY5 Louise Daugherty Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 to Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia, 606703
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 v0.0 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to