Intellectual disability syndromic and non-syndromic
Gene: RLIM

RLIM (ring finger protein, LIM domain interacting)
EnsemblGeneIds (GRCh38): ENSG00000131263
EnsemblGeneIds (GRCh37): ENSG00000131263
OMIM: 300379, Gene2Phenotype
RLIM is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

14 males from 9 families reported with duplications involving RLIM gene and intellectual disability, suggesting dosage effect.
Created: 7 Dec 2020, 7:50 a.m. | Last Modified: 7 Dec 2020, 7:50 a.m.

Panel Version: 0.3258

Eight unrelated families and a zebrafish model.

Most individuals exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioural abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities.
Created: 14 Nov 2020, 3:59 a.m. | Last Modified: 14 Nov 2020, 3:59 a.m.

Panel Version: 0.3193

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Tonne-Kalscheuer syndrome, MIM# 300978

Publications

Mode of pathogenicity
Other

Created: 14 Nov 2020, 3:59 a.m.
Last Modified: 7 Dec 2020, 7:50 a.m.
Panel version: 0.3258

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Tonne-Kalscheuer syndrome, MIM# 300978

OMIM

300379

Clinvar variants

Variants in RLIM

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene