Congenital diaphragmatic hernia
Gene: RLIMEnsemblGeneIds (GRCh38): ENSG00000131263
EnsemblGeneIds (GRCh37): ENSG00000131263
OMIM: 300379, Gene2Phenotype
RLIM is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Sources: Expert listCreated: 14 Nov 2020, 3:55 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Tonne-Kalscheuer syndrome, MIM# 300978
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tonne-Kalscheuer syndrome, MIM# 300978
- OMIM
- 300379
- Clinvar variants
- Variants in RLIM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rlim has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rlim has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RLIM was added gene: RLIM was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RLIM were set to 29728705; 25735484; 25644381 Phenotypes for gene: RLIM were set to Tonne-Kalscheuer syndrome, MIM# 300978 Review for gene: RLIM was set to GREEN