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| Malformations of cortical development v4.8 | SLC35A2 | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC35A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.8 | SLC35A2 | Eleanor Williams reviewed gene: SLC35A2: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.7 | SLC35A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A2. Source NHS GMS was added to SLC35A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v3.8 | SLC35A2 |
Arina Puzriakova Tag Q4_22_expert_review was removed from gene: SLC35A2. Tag mosaicism tag was added to gene: SLC35A2. Tag somatic tag was added to gene: SLC35A2. |
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| Malformations of cortical development v3.8 | SLC35A2 | Arina Puzriakova Phenotypes for gene: SLC35A2 were changed from Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Congenital disorder of glycosylation, type IIm, OMIM:300896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.7 | SLC35A2 | Arina Puzriakova Publications for gene: SLC35A2 were set to 33407896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.6 | SLC35A2 | Arina Puzriakova Classified gene: SLC35A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.6 | SLC35A2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene-disease association and regardless of ability to detect somatic variants via this panel, there are enough cases with germline variants to warrant inclusion with a Green classification. Somatic cases should be picked up via other routes such as R429 'Mosaic brain disorders - deep sequencing' which is catered to somatic variant detection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.6 | SLC35A2 | Arina Puzriakova Gene: slc35a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.5 | SLC35A2 |
Arina Puzriakova Tag Q4_22_promote_green tag was added to gene: SLC35A2. Tag Q4_22_expert_review tag was added to gene: SLC35A2. |
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| Malformations of cortical development v2.44 | SLC35A2 |
Zornitza Stark changed review comment from: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. Sources: Literature; to: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. Rated as Amber as uncertain whether panel only caters to germline sequencing. Sources: Literature |
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| Malformations of cortical development v2.44 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: SLC35A2 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: SLC35A2 were set to 33407896 Phenotypes for gene: SLC35A2 were set to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Review for gene: SLC35A2 was set to AMBER Added comment: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. Sources: Literature |
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