Familial Neural Tube Defects
Gene: HPE12 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 16 Aug 2017, 10:44 a.m.
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 3:34 p.m.
Details
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
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- Holoprosencephaly
- Tags
- OMIM
- 236100
- Clinvar variants
- Variants in HPE1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HPE1.
8 Jul 2020, Gel status: 0
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: HPE1.
16 Aug 2017, Gel status: 0
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
25 Oct 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Added New Source
Olivia Niblock (Genomics England Curator)HPE1 was added to Familial Neural Tube Defectspanel. Sources: Other
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)HPE1 was created by oniblock