Growth failure
Gene: PROKR2EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 8 panels
1 review
Danielle Ariti (University of Melbourne)
Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1).
Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.
Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.
Growth failure/ short stature in early childhood is not a prominent featureCreated: 31 Aug 2021, 6:25 a.m. | Last Modified: 31 Aug 2021, 6:25 a.m.
Panel Version: 0.368
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200; Kallmann syndrome (KS); normosmic idiopathic hypogonadotropic hypogonadism (nIHH); Anosmia; GnRH deficiency; cleft lip and palate; renal agenesis; Hypogonadotropic hypogonadism; low testosterone/ estradiol; Absent/ partial Puberty; Hearing loss
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200
- Kallmann syndrome (KS)
- normosmic idiopathic hypogonadotropic hypogonadism (nIHH)
- Anosmia
- GnRH deficiency
- cleft lip and palate
- renal agenesis
- Hypogonadotropic hypogonadism
- low testosterone/ estradiol
- Absent/ partial Puberty
- Hearing loss
- OMIM
- 607123
- Clinvar variants
- Variants in PROKR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prokr2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PROKR2 were changed from hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy to Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200; Kallmann syndrome (KS); normosmic idiopathic hypogonadotropic hypogonadism (nIHH); Anosmia; GnRH deficiency; cleft lip and palate; renal agenesis; Hypogonadotropic hypogonadism; low testosterone/ estradiol; Absent/ partial Puberty; Hearing loss
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PROKR2 were set to 22319038
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PROKR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PROKR2 was added gene: PROKR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PROKR2 were set to 22319038 Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy