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Intellectual disability
Gene: MSL2

MSL2 (MSL complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000174579
EnsemblGeneIds (GRCh37): ENSG00000174579
OMIM: 614802, Gene2Phenotype
MSL2 is in 3 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.

Panel Version: 8.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Created: 24 Jul 2024, 12:23 p.m. | Last Modified: 24 Jul 2024, 12:23 p.m.

Panel Version: 6.77

PMID:38702431 reported three unrelated individuals with monoallelic MSL2 variants and with a neurdodevelopmental disorder. Two of them had global developmental delay (GDD) and intellectual disability (ID), while the third patient had motor delay only.

PMID:38815585 reported a cohort of 25 individuals with heterozygous de novo MSL2 variants and presenting with GDD, ID, hypotonia and motor issues.

This gene has been associated with phenotype in Gene2Phenotype (with 'definitive' rating on the DD panel), but not yet in OMIM.
Created: 24 Jul 2024, 12:18 p.m. | Last Modified: 24 Jul 2024, 12:18 p.m.

Panel Version: 6.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 24 Jul 2024, 12:18 p.m.
Last Modified: 24 Jul 2024, 12:18 p.m.
Panel version: 6.75

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Green List (high evidence)

Recent publications supports that MSL2 variants were associated with NDD phenotypes including global developmental delay, intellectual disability, hypotonia, and motor issues such as coordination problems, feeding difficulties, and gait disturbance. Dysmorphisms and behavioral and/or psychiatric conditions, including autism spectrum disorder, and to a lesser extent, seizures, connective tissue disease signs, sleep disturbance, vision problems, and other organ anomalies, were observed in affected individuals.
PMID: 38815585, 38702431
Created: 12 Jul 2024, 1:42 p.m. | Last Modified: 12 Jul 2024, 1:42 p.m.

Panel Version: 6.52

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay; intellectual disability; autism spectrum disorder; hypotonia

Publications

PMID: 38815585
38702431

Created: 12 Jul 2024, 1:42 p.m.
Last Modified: 12 Jul 2024, 1:42 p.m.
Panel version: 6.52

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 3:05 p.m. | Last Modified: 4 Dec 2020, 3:05 p.m.

Panel Version: 3.590

Created: 4 Dec 2020, 3:05 p.m.
Last Modified: 4 Dec 2020, 3:05 p.m.
Panel version: 3.590

Zornitza Stark (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
Developmental disorders; autism

Publications

Created: 4 Nov 2020, 4:50 a.m.

Panel version: 3.510

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985

OMIM

614802

Clinvar variants

Variants in MSL2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: MSL2. Tag Q3_24_NHS_review was removed from gene: MSL2.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to MSL2. Source Expert Review Green was added to MSL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Oct 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985

24 Jul 2024, Gel status: 2