Activity
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15 actions
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| Severe insulin resistance and lipodystrophy syndromes v1.0 | LIPE | Ivone Leong commented on gene: LIPE: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Marked gene: LIPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Gene: lipe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong commented on gene: LIPE: Keven Colclough (Royal Devon & Exeter Hospital) has agreed that LIPE should be promoted to green gene status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Marked gene: LIPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Gene: lipe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Classified gene: LIPE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.17 | LIPE | Ivone Leong Gene: lipe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.16 | LIPE | Ivone Leong Classified gene: LIPE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.16 | LIPE | Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.16 | LIPE | Ivone Leong Gene: lipe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.15 | LIPE | Ivone Leong Publications for gene: LIPE were set to 27862896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v0.11 | LIPE |
Ivone Leong gene: LIPE was added gene: LIPE was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPE were set to 27862896 Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980 |
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