LIFR

LIF receptor alpha
OMIM: 151443, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green LIFR in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green LIFR in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559
Green LIFR in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Level 2: Renal and urinary tract disorders Version 0.117 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT
Green LIFR in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 CAKUT
Green LIFR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Green LIFR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Green LIFR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Stuve-Wiedemann syndrome
Green LIFR in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OMIM# 601559 STUVE-WIEDEMANN SYNDROME STWS
Green LIFR in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 CAKUT
Green LIFR in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Red LIFR in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Green LIFR in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)