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Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Cardiomyopathy_Paediatric v1.341 NAGLU Zornitza Stark Publications for gene: NAGLU were set to 27604308
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Classified gene: NAGLU as Green List (high evidence)
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.339 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 37239976; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Marked gene: AGL as ready
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Phenotypes for gene: AGL were changed from Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400 to Glycogen storage disease IIIa and IIIb, MIM#232400
Cardiomyopathy_Paediatric v1.167 AGL Sarah Milton reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Cardiomyopathy_Paediatric v0.121 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Cardiomyopathy_Paediatric v0.10 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Cardiomyopathy_Paediatric v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB
Cardiomyopathy_Paediatric v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 27604308; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Phenotypes for gene: AGL were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400