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Fetal anomalies

Gene: MSL3

Green List (high evidence)

MSL3 (MSL complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000005302
EnsemblGeneIds (GRCh37): ENSG00000005302
OMIM: 300609, Gene2Phenotype
MSL3 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MSL3 syndrome
Created: 11 Dec 2018, 9:05 a.m.

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
Phenotypes
  • MSL3 syndrome
  • Basilicata-Akhtar syndrome, 301032
OMIM
300609
Clinvar variants
Variants in MSL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032

24 Mar 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene MSL3 were changed from to 30224647

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MSL3 was added gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MSL3 were set to MSL3 syndrome