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| Malformations of cortical development v3.11 | DCHS1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: DCHS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | DCHS1 | Arina Puzriakova edited their review of gene: DCHS1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | DCHS1 |
Arina Puzriakova Source Expert Review Green was added to DCHS1. Source NHS GMS was added to DCHS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.76 | DCHS1 |
Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases with relevant phenotype and variants in this gene to rate as Green. Brain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases (4 patients from 3 families) with relevant phenotype and confirmed variants in this gene to rate as Green. Brain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect. |
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| Malformations of cortical development v2.76 | DCHS1 | Arina Puzriakova Publications for gene: DCHS1 were set to 27262615; 22473091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.75 | DCHS1 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: DCHS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.75 | DCHS1 | Arina Puzriakova Classified gene: DCHS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.75 | DCHS1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases with relevant phenotype and variants in this gene to rate as Green. Brain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect. |
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| Malformations of cortical development v2.75 | DCHS1 | Arina Puzriakova Gene: dchs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.74 | DCHS1 | Arina Puzriakova Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1, OMIM:601390 to Van Maldergem syndrome 1, OMIM:601390; Periventricular nodular heterotopia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.73 | DCHS1 | Arina Puzriakova Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1 (MIM#601390) to Van Maldergem syndrome 1, OMIM:601390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.11 | DCHS1 |
Zornitza Stark gene: DCHS1 was added gene: DCHS1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCHS1 were set to 27262615; 22473091 Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1 (MIM#601390) Review for gene: DCHS1 was set to GREEN gene: DCHS1 was marked as current diagnostic Added comment: PMID: 27262615; - cohort of 26x periventricular band heterotopias and 2x had additional phenotype of pachygyria - 2nd cohort of 10x band heterotopias PMID: 22473091; - 1x patient with localised areas of cortical thickening and gyral simplification Sources: Literature Sources: Expert list |
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