Activity
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| Fetal anomalies v6.29 | LIPN | Arina Puzriakova reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | LIPN | Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | LIPN | Stephanie Allen reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Ichthyosis, congenital, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | LIPN |
Arina Puzriakova Added phenotypes Ichthyosis, congenital, autosomal recessive 8 for gene: LIPN Publications for gene: LIPN were updated from 21439540 to 21439540; 39891418 |
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| Fetal anomalies v5.46 | LIPN | Achchuthan Shanmugasundram Phenotypes for gene: LIPN were changed from ICHTHYOSIS, LAMELLAR, 4; Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 to Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | LIPN | Achchuthan Shanmugasundram commented on gene: LIPN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | LIPN | Natalie Chandler reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM#613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | LIPN |
Achchuthan Shanmugasundram Source NHS GMS was added to LIPN. Source Expert Review Red was added to LIPN. Added phenotypes Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 for gene: LIPN Publications for gene: LIPN were updated from to 21439540 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | LIPN | Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | LIPN |
Rebecca Foulger gene: LIPN was added gene: LIPN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 |
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