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| Mendeliome v2.96 | ADGRL2 |
Zornitza Stark gene: ADGRL2 was added gene: ADGRL2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ADGRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRL2 were set to 30340542 Phenotypes for gene: ADGRL2 were set to Neurodevelopmental disorder, MONDO:0700092, ADGRL2-related Review for gene: ADGRL2 was set to RED Added comment: Single individual reported with de novo missense variant, in a fetus with extreme microcephaly with almost no sulcation and rhombencephalosynapsis. Embryonic lethality was observed in constitutive Adgrl2-/- mice. In Adgrl2+/- mice, MRI studies revealed microcephaly and vermis hypoplasia. Sources: Literature |
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| Mendeliome v2.0 | LCAT | Gene migrated from ENSG00000213398 to ENSG00000213398 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4024 | LCAT | Lucy Spencer Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12049 | LCAT | Alison Yeung Marked gene: LCAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12049 | LCAT | Alison Yeung Gene: lcat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12049 | LCAT | Alison Yeung Phenotypes for gene: LCAT were changed from to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12048 | LCAT | Alison Yeung Publications for gene: LCAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12047 | LCAT | Alison Yeung Mode of inheritance for gene: LCAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12046 | LCAT | Alison Yeung reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900, Fish-Eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | LCAT |
Zornitza Stark gene: LCAT was added gene: LCAT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LCAT was set to Unknown |
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