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Severe microcephaly

Gene: WDR37

Amber List (moderate evidence)

WDR37 (WD repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000047056
EnsemblGeneIds (GRCh37): ENSG00000047056
WDR37 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support this gene-disease association. This gene should be rated Green at the next review.
Created: 4 May 2021, 3:08 p.m. | Last Modified: 4 May 2021, 3:08 p.m.
Panel Version: 2.115

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Summary: 7/9 individuals reported with neurooculocardiogenitourinary syndrome had microcephaly. 5 had measurements provided and were severe (-3SD).

PMID 31327510: 4 individuals with de novo missense variants reported, with Neurooculocardiogenitourinary syndrome. All four have microcephaly - 49.5cm at 21yo, 40.2cm at 22mo (-4.8SD), 47.4cm at 7.5yo.

PMID 31327508: 5 probands with de novo missense variants, 3 with microcephaly (0th centile, <3rd centile (-5SD), and 11th centile)
Sources: Expert list
Created: 31 Aug 2020, 11:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurooculocardiogenitourinary syndrome MIM#618652

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurooculocardiogenitourinary syndrome, OMIM:618652
Tags
Q2_21_rating
Clinvar variants
Variants in WDR37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: wdr37 has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: WDR37.

4 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WDR37 were changed from Neurooculocardiogenitourinary syndrome MIM#618652 to Neurooculocardiogenitourinary syndrome, OMIM:618652

31 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: WDR37 was added gene: WDR37 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to 31327508; 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome MIM#618652 Review for gene: WDR37 was set to GREEN