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Intellectual disability syndromic and non-syndromic

Gene: MSL2

Green List (high evidence)

MSL2 (MSL complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000174579
EnsemblGeneIds (GRCh37): ENSG00000174579
OMIM: 614802, Gene2Phenotype
MSL2 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Additional cases reported - promoting gene to Green.

PMID: 38702431
Specifically reported on 3 unrelated probands with various neurodevelopmental phenotypes.
3 probands
Proband 1:
6yr F ASD, DD. WES identified a de novo MSL2 frameshift variant.
Proband 2:
11yM global DD, seizures, abnormal brain MRI. this proband presented with mild dysmorphisms as well. A 4bp deletion in MSL2 resulting in a frameshift was identified in WES.
Proband 3:
16F central hypotonia, difficulty swallowing, exercise intolerance. She also reported motor DD and regression. WES identified a nonsense variant in MLS2.

PMID: 38815585
Cohort of 25 individuals with neurodevelopmental disorders (incl ID, DD, hypotonia) all with de novo heterozygous mutations.
Created: 5 Jun 2024, 12:03 a.m. | Last Modified: 5 Jun 2024, 12:03 a.m.
Panel Version: 0.6032

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MSL2-Related Developmental Disorder

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
PMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model
Sources: Literature
Created: 4 Nov 2020, 4:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985
OMIM
614802
Clinvar variants
Variants in MSL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, MSL2-related to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msl2 has been classified as Green List (High Evidence).

5 Jun 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to Neurodevelopmental disorder, MONDO:0700092, MSL2-related

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msl2 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msl2 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSL2 was added gene: MSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MSL2 were set to 31332282; 33057194 Phenotypes for gene: MSL2 were set to Developmental disorders; autism Review for gene: MSL2 was set to AMBER