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Fetal anomalies

Gene: MSL2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green on ID panel. PMID: 38815585 reported 25 unrelated patients, aged 4 months to 37 years all de novo variants. 9 had abnormalities on brain MRI, including delayed myelination, white matter loss, small corpus callosum, enlarged extracerebral spaces, dilated ventricles, hydrocephaly, periventricular nodular heterotopia, cavum septum pellucidum, polymicrogyria.. Eleven patients had perinatal complications, including prematurity, intrauterine growth restriction, or reanimation due to fetal distress. Dysmorphic features included deep-set eyes, strabismus, downslanting palpebral fissures, ear abnormalities, tall forehead, abnormal philtrum, and/or thin vermillion. Thirteen patients had signs of connective tissue abnormalities. Visual problems, reported in 9 patients, included strabismus, high myopia, and congenital cataracts. Other anomalies were diagnosed in the gastrointestinal (6/24, 25%), genitourinary (3/24, 13%), and renal (2/24, 8%) systems. These included dysmotility, bilateral inguinal hernias, low levels of creatinine in urine, elevated sulfites in urine, polycystic kidney, and hypospadias. Two individuals also had cardiac anomalies (2/24, 8%). Green.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Karayol-Borroto-Haghshenas neurodevelopmental syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
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

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: MSL2. Tag Q3_25_NHS_review was removed from gene: MSL2.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSL2 were changed from Karayol-Borroto-Haghshenas neurodevelopmental syndrome to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: MSL2. Tag Q3_25_NHS_review tag was added to gene: MSL2.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: MSL2 was added gene: MSL2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MSL2 were set to 38815585; 33057194; 31332282 Phenotypes for gene: MSL2 were set to Karayol-Borroto-Haghshenas neurodevelopmental syndrome