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Prepair 1000+

Gene: PCSK1

Green List (high evidence)

PCSK1 (proprotein convertase subtilisin/kexin type 1)
EnsemblGeneIds (GRCh38): ENSG00000175426
EnsemblGeneIds (GRCh37): ENSG00000175426
OMIM: 162150, Gene2Phenotype
PCSK1 is in 6 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

MM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.

PMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue
parenteral feeding.

PMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support
that may be tapered off as the child ages.

PMID 23562752 - Pediatric cohort of 11 families. 2 individuals died at 8 & 15 months. 3 other children from 3 families died as either neonates or during late childhood following chronic diarrhea. The oldest proband was 17yo
Created: 15 Apr 2025, 6:06 a.m. | Last Modified: 15 Apr 2025, 6:06 a.m.
Panel Version: 1.1868

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955
OMIM
162150
Clinvar variants
Variants in PCSK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcsk1 has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955 (3) to Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCSK1 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: PCSK1 was added gene: PCSK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)