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| Childhood onset dystonia, chorea or related movement disorder v7.25 | ATAD1 | Achchuthan Shanmugasundram Classified gene: ATAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.25 | ATAD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of biallelic variants with hyperekplexia. As other hyperekplexia-causing genes (e.g. GLRA1 & GLRB) are rated green on this panel, this gene should also be rated green in the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.25 | ATAD1 | Achchuthan Shanmugasundram Gene: atad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.24 | ATAD1 |
Achchuthan Shanmugasundram gene: ATAD1 was added gene: ATAD1 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Q2_26_promote_green tags were added to gene: ATAD1. Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736; 33134516; 36933275 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011; hyperekplexia 4, MONDO:0044330 Review for gene: ATAD1 was set to GREEN Added comment: PMID:28180185 (2017) reported the identification of a homozygous nonsense variant in ATAD1 gene (p.Glu276Ter) in a large consanguineous Kuwaiti family. They presented with a neurological disorder characterised by hypertonia, seizures, and death. Detailed clinical information was available for two of the patients and they had no or little spontaneous movement. There is also functional evidence available from ATAD1 knockout mouse model, from which the authors suggested loss-of-function mechanism for the variant. PMID:29390050 (2018) reported the identification of a homozygous frameshift variant in ATAD1 gene (p.His357Argfs*15) in three siblings from a consanguineous Tunisian family who presented with a severe, lethal encephalopathy associated with stiffness and arthrogryposis. The proband had exaggerated startle and clonic movements. Functional evidence was available which suggested that gain-of-function for the variant. PMID:29659736 (2018) reported a female infant born of consanguineous parents with a similar disorder. She was identified with a homozygous ATAD1 variant (c.162G-C) that was predicted to result in a missense variant or a splicing defect causing loss of function. She was a stiff baby at birth and had no spontaneous movements. PMID:33134516 (2020) reported two new unrelated patients presenting with a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. They were identified with homozygous variants in ATAD1 gene (Patient 1: p.His357Argfs*15; Patient 2: p.Gly128Val). PMID:36933275 (2023) reported the identification of two novel heterozygous variants in ATAD1 gene (maternal: c.690+1G>c - splice site variant; paternal: c.148G>T - nonsense) in a female neonate presenting with hypertonia, tremulousness and clonus. This gene has been associated with hyperekplexia 4 in OMIM (MIM #618011, last accessed 23 April 2026), but not in Gene2Phenotype or ClinGen. Sources: Literature |
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