1. Panels
  2. Fetal anomalies
  3. MYOD1
Genes in panel
Prev Next

Fetal anomalies

Gene: MYOD1

Green List (high evidence)
MYOD1 (myogenic differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000129152
EnsemblGeneIds (GRCh37): ENSG00000129152
OMIM: 159970, Gene2Phenotype
MYOD1 is in 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Bibb (C&S GLH)

Green List (high evidence)

Green in congenital myopathy. Decipher - not a known LOF gene. 3 unrelated families. PMID:26733463 - consangiuneous family 3 affected sibs. Prenetal presentation of resolved cystic hygroma 12wks,polyhydramnios in 3rd trimester, at birth ventilator dependent, hypoxic episode and died, post mortem- dysmorphism, cleft palate, lung hypoplasi, toes overlapping, clenched fists. 2nd child during scana right duplex kidney, polyhydramnios, gross right-sided hydronephrosis, Apgar scores 1 at 1-5mins, baby died. Post mortam dysmorphism, long tapered fingers with contractures and overlapping toes, cleft palalte, small lungs. 3rd child healthy (different partner, 1st cousin). 4th child cystic hygorma prenatally, died at birth , post mortem contractures, bilateral knee flexion, cleft palate pulmonary hypoplasia. All affected children were homozygous for nonsense variant, mother was heterozyous as waa new partenr and his unaffceted daughter. PMID:30403323- 1 affected female, respiratory infections, hypotonia, ptosis, motor delay and failure to thrive, resulting in the placement of a gastrostomy by the age of 2 years, severe nocturnal hypercapnia. Pulmonary bilateral high diaphragmatic domes without pulmonary hypoplasia, bilateral small kidney, homozygous nonsense variant (c.697G>T; p.Glu233*) segregated with the phenotype (parents and unaffected siblings are heterozygous carriers). PMID:31260566 - 13 months old girl with poor weight gain and motor delay born to fourth degree consanguineous couple. Polyhydramnios 3rd trimetser, after birth triangular face, telecanthus, short and down slanting palpebral fissures, hypoplastic supraorbital ridges, esotropia, low set ears, smooth philtrum, tented upper lip and narrow jaw, pectus excavatum and distal arthrogryposis. Homozygous frameshift variant identified. Male sib died aged 2 years similarly affected, no testing perfomed. ?Not currently strong functional data. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Ivone Leong (Genomics England Curator)

Affected individuals present with hypotonia and respiratory insufficiency. More severe cases develop features in utero and lead to contractures.
Created: 27 Jul 2021, 9:14 a.m. | Last Modified: 27 Jul 2021, 9:14 a.m.
Panel Version: 2.56
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Fetal anomalies). Therefore, this gene has been given an Amber rating.
Created: 8 Jul 2021, 9:20 a.m. | Last Modified: 27 Jul 2021, 9:17 a.m.
Panel Version: 1.692
Created: 8 Jul 2021, 9:20 a.m.
Last Modified: 27 Jul 2021, 9:17 a.m.
Copied from panel: Congenital myopathy v2.56

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Literature
Created: 7 Sep 2020, 8:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975

Publications

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

Created: 7 Sep 2020, 8:39 p.m.

Copied from panel: Congenital myopathy v2.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
OMIM
159970
Clinvar variants
Variants in MYOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: MYOD1. Tag Q3_24_promote_green was removed from gene: MYOD1. Tag Q3_24_NHS_review was removed from gene: MYOD1.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MYOD1. Source Expert Review Green was added to MYOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: MYOD1. Tag Q3_24_NHS_review tag was added to gene: MYOD1.

27 Jul 2021, Gel status: 2

Removed Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: MYOD1. Tag watchlist tag was added to gene: MYOD1.

27 Jul 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: MYOD1 was added gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: MYOD1. Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566 Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975