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Prepair 1000+

Gene: RLIM

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral 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 (summary by Frints et al., 2019).
Created: 25 Oct 2024, 5:22 a.m. | Last Modified: 25 Oct 2024, 5:22 a.m.
Panel Version: 1.486

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

Phenotypes
Tonne-Kalscheuer syndrome MIM#300978

Created: 25 Oct 2024, 5:22 a.m.
Last Modified: 25 Oct 2024, 5:22 a.m.
Panel version: 1.486

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tonne-Kalscheuer syndrome MIM#300978
OMIM
300379
Clinvar variants
Variants in RLIM
Penetrance
None
Panels with this gene

History Filter Activity

30 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RLIM were changed from Mental retardation, X-linked 61, 300978 (3), X-linked recessive to Tonne-Kalscheuer syndrome MIM#300978

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: RLIM was added gene: RLIM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive