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Dystonia, chorea or related movement disorder, childhood onset v1.217 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 ALDH18A1 Sarah Leigh Tag Q2_21_phenotype was removed from gene: ALDH18A1.
Tag Q2_21_expert_review was removed from gene: ALDH18A1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.131 ALDH18A1 Sarah Leigh changed review comment from: Based on review by Zornitza Stark and opinion of Helen Brittain (Genomics England Clinical Fellow), the Q2_21_phenotype & Q2_21_expert_review tags have been added, in order to request the opinion of the TEWG regarding the relevance of phenotype associated with variants in ALDH18A1 for this panel (Childhood onset dystonia or chorea or related movement disorder).; to: Based on review by Zornitza Stark and the opinion of Helen Brittain (Genomics England Clinical Fellow), the Q2_21_phenotype & Q2_21_expert_review tags have been added, in order to request the opinion of the TEWG regarding the relevance of phenotype associated with variants in ALDH18A1 for this panel (Childhood onset dystonia or chorea or related movement disorder).
Dystonia, chorea or related movement disorder, childhood onset v1.131 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1
Dystonia, chorea or related movement disorder, childhood onset v1.131 ALDH18A1 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: ALDH18A1.
Dystonia, chorea or related movement disorder, childhood onset v1.92 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586 to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndromeMONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Dystonia, chorea or related movement disorder, childhood onset v1.91 ALDH18A1 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ALDH18A1.
Dystonia, chorea or related movement disorder, childhood onset 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
Dystonia, chorea or related movement disorder, childhood onset v0.31 ALDH18A1 Ellen McDonagh Added comment: Comment on phenotypes: From OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.31 ALDH18A1 Ellen McDonagh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586
Dystonia, chorea or related movement disorder, childhood onset v0.30 ALDH18A1 Ellen McDonagh Added comment: Comment on mode of inheritance: Sourced from OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.30 ALDH18A1 Ellen McDonagh Mode of inheritance for gene: ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to