Amelogenesis imperfecta

Gene: WDR72

Green List (high evidence)

WDR72 (WD repeat domain 72)
EnsemblGeneIds (GRCh38): ENSG00000166415
EnsemblGeneIds (GRCh37): ENSG00000166415
OMIM: 613214, Gene2Phenotype
WDR72 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: August 16th 2017.
Created: 16 Aug 2017, 8:43 a.m.
Comment on list classification: Kept rating as Green: Green expert review and on Leeds diagnostic panel. Plus sufficient (>3) cases to support causation, although no disease yet assigned in DD-G2P.
Created: 16 Aug 2017, 8:42 a.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomaturation AI. Variable reports of hypodontia and delayed tooth eruption also depending upon location of variant. Also some reports of an association with short stature, although this is not proven. Nearly all variants are truncating variant likely to be subject to nonsense mediated decay. Only one missense variant has been identified. See WDR72 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/WDR72
Created: 21 Jul 2017, 2:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA3 613211

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA3, 613211
  • Amelogenesis Imperfecta, Type IIA3, 613211
  • Amelogenesis Imperfecta, Recessive
  • Hypomaturation AI
OMIM
613214
Clinvar variants
Variants in WDR72
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

16 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for WDR72 were set to Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI

16 Aug 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for WDR72 were set to 25008349; 23293580; 20938048; 19853237; 21196691; 26502894; 27259663

8 Jun 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

WDR72 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

WDR72 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene WDR72 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

WDR72 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDR72 was created by rfoulger

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDR72 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing