1. Panels
  2. Fetal anomalies
  3. MSL3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

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 5 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal anomalies include macrocephaly, cerebellar vermis hypoplasia
Created: 30 Jan 2022, 11:04 p.m. | Last Modified: 30 Jan 2022, 11:04 p.m.
Panel Version: 0.2946

Phenotypes
Basilicata-Akhtar syndrome, MIM# 301032

Created: 30 Jan 2022, 11:04 p.m.
Last Modified: 30 Jan 2022, 11:04 p.m.
Panel version: 0.2946

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established ID gene. 2021 paper documents findings in 25 individuals. Variants found to be clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding.
Created: 14 Feb 2021, 10:34 a.m. | Last Modified: 14 Feb 2021, 10:34 a.m.
Panel Version: 0.3452

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Basilicata-Akhtar syndrome, OMIM # 301032

Publications

Created: 14 Feb 2021, 10:34 a.m.
Last Modified: 14 Feb 2021, 10:34 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3452

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
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Basilicata-Akhtar syndrome, MIM# 301032
OMIM
300609
Clinvar variants
Variants in MSL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: msl3 has been classified as Green List (High Evidence).

30 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSL3 was added gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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) Publications for gene: MSL3 were set to 30224647 Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, 301032; MSL3 syndrome