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Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

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. Early onset reported.
Created: 15 Oct 2024, 5:20 a.m. | Last Modified: 15 Oct 2024, 5:20 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cold-induced sweating syndrome 1, MIM#272430

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cold-induced sweating syndrome 1, 272430 (3)
OMIM
604237
Clinvar variants
Variants in CRLF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CRLF1 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)