RLIM

ring finger protein, LIM domain interacting
OMIM: 300379, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RLIM in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tonne-Kalscheuer syndrome, MIM# 300978

Green RLIM in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tonne-Kalscheuer syndrome, MIM# 300978

Green RLIM in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Tonne-Kalscheuer syndrome, MIM# 300978

Green RLIM in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 61, 300978 (3), X-linked recessive

Green RLIM in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Tonne-Kalscheuer syndrome, MIM# 300978

Green RLIM in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 61, 300978 (3), X-linked recessive