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Arthrogryposis v2.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.28 ERBB3 Chirag Patel Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598 to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy
Arthrogryposis v1.27 ERBB3 Chirag Patel Publications for gene: ERBB3 were set to 17701904; 31752936; 33497358
Arthrogryposis v1.27 ERBB3 Chirag Patel Publications for gene: ERBB3 were set to 17701904; 31752936
Arthrogryposis v1.26 ERBB3 Chirag Patel reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.24 Chirag Patel Added reviews for gene ERBB3 from panel Hereditary Neuropathy
Arthrogryposis v1.23 ERBB3 Chirag Patel Classified gene: ERBB3 as Green List (high evidence)
Arthrogryposis v1.23 ERBB3 Chirag Patel Gene: erbb3 has been classified as Green List (High Evidence).
Arthrogryposis v1.21 ERBB2 Chirag Patel changed review comment from: Main paper for cases described in PMID 33720042.
2 siblings from consanguineous Turkish family with intestinal dysmotility, severe constipation (aganglionosis in submucosa at rectum), peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, sensorineural hearing loss, and clubfeet. They had a homozygous rare missense variant in ERBB2 gene (A710V) and parents were heterozygous carriers. No functional studies; to: Main paper for cases described in PMID 33720042.
2 siblings from consanguineous Turkish family with intestinal dysmotility, severe constipation (aganglionosis in submucosa at rectum), peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, sensorineural hearing loss, and clubfeet. They had a homozygous rare missense variant in ERBB2 gene (A710V) and parents were heterozygous carriers. Western blot analysis revealed a drastic decrease of both ERBB2 and ERBB3 phosphorylation. Other papers showed mice knockout of Erbb2 results in the absence or severe depletion of various neural crest–derived cells.
Arthrogryposis v1.21 ERBB3 Chirag Patel Classified gene: ERBB3 as Green List (high evidence)
Arthrogryposis v1.21 ERBB3 Chirag Patel Gene: erbb3 has been classified as Green List (High Evidence).
Arthrogryposis v1.21 ERBB3 Chirag Patel Classified gene: ERBB3 as Green List (high evidence)
Arthrogryposis v1.21 ERBB3 Chirag Patel Gene: erbb3 has been classified as Green List (High Evidence).
Arthrogryposis v1.20 Chirag Patel Added reviews for gene ERBB3 from panel Gastrointestinal neuromuscular disease
Arthrogryposis v0.122 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Arthrogryposis v0.122 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.122 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, MIM# 607598
Arthrogryposis v0.121 ERBB3 Zornitza Stark Publications for gene: ERBB3 were set to
Arthrogryposis v0.120 ERBB3 Zornitza Stark Mode of inheritance for gene: ERBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.119 ERBB3 Zornitza Stark Classified gene: ERBB3 as Amber List (moderate evidence)
Arthrogryposis v0.119 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.118 ERBB3 Zornitza Stark reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERBB3 was set to Unknown