Autonomic neuropathy
Gene: LIFR
LIFR (LIF receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 12 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Dysautonomia a common feature
Sources: LiteratureCreated: 12 Nov 2020, 9:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM# 601559 STUVE-WIEDEMANN SYNDROME
- STWS
- OMIM
- 151443
- Clinvar variants
- Variants in LIFR
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Autonomic neuropathy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
History Filter Activity
12 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lifr has been classified as Green List (High Evidence).
12 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lifr has been classified as Green List (High Evidence).
12 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: LIFR was added gene: LIFR was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS gene: LIFR was marked as current diagnostic