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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MSL3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, X-linked, syndromic, 36, 301032 (3); Mode of inheritance: ND
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

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
  • Mental retardation, X-linked, syndromic, 36, 301032
OMIM
300609
Clinvar variants
Variants in MSL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MSL3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, 36, 301032 for gene: MSL3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, 36, 301032 for gene: MSL3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, 36, 301032 for gene: MSL3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, 36, 301032 for gene: MSL3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MSL3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MSL3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MSL3 was added gene: MSL3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MSL3 was set to