1. Panels
  2. Fetal anomalies
  3. CRLF1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: CRLF1

Green List (high evidence)
CRLF1 (cytokine receptor like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000006016
EnsemblGeneIds (GRCh37): ENSG00000006016
OMIM: 604237, Gene2Phenotype
CRLF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Micrognathia, camptodactyly are features.

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis.

Multiple unrelated families reported.
Created: 22 Nov 2021, 4:27 a.m. | Last Modified: 22 Nov 2021, 4:27 a.m.
Panel Version: 0.610

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cold-induced sweating syndrome 1, MIM#272430

Publications

Created: 30 Nov 2019, 12:09 a.m.
Last Modified: 30 Nov 2019, 12:09 a.m.
Panel version: 0.610

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cold-induced sweating syndrome 1, MIM#272430
OMIM
604237
Clinvar variants
Variants in CRLF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crlf1 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRLF1 were changed from Cold-induced sweating syndrome 1 272430 to Cold-induced sweating syndrome 1, MIM#272430

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRLF1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRLF1 was added gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430