Prepair 1000+
Gene: OBSL1

OBSL1 (obscurin like 1)
EnsemblGeneIds (GRCh38): ENSG00000124006
EnsemblGeneIds (GRCh37): ENSG00000124006
OMIM: 610991, Gene2Phenotype
OBSL1 is in 9 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene-disease association.

Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.

Severity: moderate

congenital onset.
Created: 30 Jul 2024, 6:27 a.m. | Last Modified: 30 Jul 2024, 6:27 a.m.

Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-M syndrome 2 (MIM#612921)

Publications

Created: 30 Jul 2024, 6:27 a.m.
Last Modified: 30 Jul 2024, 6:27 a.m.
Panel version: 1.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

3-M syndrome 2, 612921 (3)

OMIM

610991

Clinvar variants

Variants in OBSL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: obsl1 has been classified as Green List (High Evidence).

14 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: OBSL1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OBSL1 was added gene: OBSL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)

Prepair 1000+ Gene: OBSL1