Congenital hyperinsulinism
Gene: GPC3As the recommendation is to demote GPC3 from Green to Red on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 31 Jan 2023, 4:38 p.m. | Last Modified: 31 Jan 2023, 4:38 p.m.
Panel Version: 2.32
Hypoglycaemia is part of the phenotype, but I cannot find reports of hyperinsulinism therefore I am not convinced this gene should be included in this panel.Created: 14 Feb 2020, 8:01 a.m. | Last Modified: 14 Feb 2020, 8:01 a.m.
Panel Version: 2.1
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).Created: 28 Jan 2019, 11:48 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: GPC3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome. This syndrome is characterized by neonatal hypoglycaemia, distinctive craniofacies, congenital heart defected genitourinary defects, GI anomalies, skeletal anomalies and supernumerary nipples.Created: 11 Jan 2019, 2:24 p.m.
Tag Q4_21_expert_review was removed from gene: GPC3. Tag Q4_21_rating was removed from gene: GPC3. Tag Q4_21_phenotype was removed from gene: GPC3.
Tag to_be_confirmed_NHSE tag was added to gene: GPC3.
Tag Q4_21_rating tag was added to gene: GPC3.
Tag Q4_21_phenotype tag was added to gene: GPC3.
Tag Q4_21_expert_review tag was added to gene: GPC3.
Phenotypes for gene: GPC3 were changed from neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples; X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870)
Gene: gpc3 has been classified as Green List (High Evidence).
Publications for gene: GPC3 were set to
Phenotypes for gene: GPC3 were changed from to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples
Mode of inheritance for gene: GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: GPC3 was added gene: GPC3 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: GPC3 was set to