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  3. WDFY3
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Severe microcephaly

Gene: WDFY3

Red List (low evidence)
WDFY3 (WD repeat and FYVE domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000163625
EnsemblGeneIds (GRCh37): ENSG00000163625
OMIM: 617485, Gene2Phenotype
WDFY3 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Created: 29 Jul 2019, 4:18 p.m.
Last Modified: 29 Jul 2019, 4:18 p.m.
Panel version: 1.62

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel based on new OMIM gene/phenotype association but kept rating as red as only 1 case so far (PMID:27008544). No disease recorded yet in DD-G2P for WDFY3.
Created: 15 Aug 2017, 2:09 p.m.
In affected members of a family with autosomal dominant primary microcephaly-18 (MCPH18; MIM:617520), Kadir et al. (2016, PMID:27008544) identified a heterozygous c.7909C-T transition in the WDFY3 gene (R2637W).
Created: 15 Aug 2017, 2:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Microcephaly 18, primary, autosomal dominant, 617520

Publications

Created: 15 Aug 2017, 2:08 p.m.

Panel version: 1.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 18, primary, autosomal dominant, 617520
OMIM
617485
Clinvar variants
Variants in WDFY3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDFY3.

15 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

15 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDFY3 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

15 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDFY3 was created by rfoulger