Disorders of sex development

Gene: MYRF

Amber List (moderate evidence)

MYRF (myelin regulatory factor)
EnsemblGeneIds (GRCh38): ENSG00000124920
EnsemblGeneIds (GRCh37): ENSG00000124920
OMIM: 608329, Gene2Phenotype
MYRF is in 6 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated families reported.
Created: 15 Jul 2020, 5:12 a.m. | Last Modified: 15 Jul 2020, 5:12 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia

Publications

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

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review.
Created: 17 Mar 2021, 4:38 p.m. | Last Modified: 17 Mar 2021, 4:38 p.m.
Panel Version: 2.37
Comment on list classification: New gene added by reviewer. I have given this gene a Red rating as this was added after the panel has been signed-off by the GMS specialist group.
Created: 1 Oct 2019, 10:16 a.m. | Last Modified: 1 Oct 2019, 10:16 a.m.
Panel Version: 2.1

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

I don't know

Hamanaka et al 2019 (PMID:30985895): enrichment study plus an independent cohort. Identified 3 de novo MYRF truncating variants in 4 DSD cases (3 families - 2 cases were monozygotic twins) and a de novo missense variant in 1 DSD case. Pinz et al 2018 (PMID: 29446546) reported de novo truncating MYRF variants in 2 male cases with genitourinary anomalies with congenital heart defects. Chitayat et al 2018 (PMID: 30070761) reported truncating variant in a patient with ambiguous genitalia and hypoplastic left heart syndrome. Qi et al 2018 (PMID: 30532227) reported 7 de novo patients with DSD, congenital heart defects and congenital diaphragmatic hernia. Rossetti et al 2019 (PMID: 31069960) reported above patients and 2 further patients with genitourinary anomalies and congenital diaphragmatic hernia.
Sources: Literature
Created: 26 Sep 2019, 11:11 a.m.

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

Phenotypes
Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiac-urogenital syndrome, OMIM:618280
  • gonadal hypoplasia
  • Mullerian duct hypoplasia
Tags
Q2_21_rating
OMIM
608329
Clinvar variants
Variants in MYRF
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

17 Mar 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MYRF.

17 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia

1 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: myrf has been classified as Red List (Low Evidence).

26 Sep 2019, Gel status: 0

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

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

gene: MYRF was added gene: MYRF was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 30985895; 29446546; 31069960; 30070761; 30532227 Phenotypes for gene: MYRF were set to Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia Penetrance for gene: MYRF were set to unknown Review for gene: MYRF was set to AMBER