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Arthrogryposis v1.29 ERBB2 Chirag Patel Publications for gene: ERBB2 were set to 33497358
Arthrogryposis v1.29 ERBB2 Chirag Patel Publications for gene: ERBB2 were set to 33497358
Arthrogryposis v1.29 ERBB2 Chirag Patel Publications for gene: ERBB2 were set to 33497358
Arthrogryposis v1.26 ERBB2 Chirag Patel Phenotypes for gene: ERBB2 were changed from Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy to Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Arthrogryposis v1.26 ERBB2 Chirag Patel Mode of inheritance for gene: ERBB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.25 ERBB2 Chirag Patel Mode of inheritance for gene: ERBB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.25 ERBB2 Chirag Patel Mode of inheritance for gene: ERBB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.23 ERBB2 Chirag Patel Phenotypes for gene: ERBB2 were changed from Congenital heart disease - left ventricular outflow tract obstruction defects; MONDO:0005453; Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623) to Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Arthrogryposis v1.22 ERBB2 Chirag Patel Publications for gene: ERBB2 were set to 40329538; 33720042
Arthrogryposis v1.22 ERBB2 Chirag Patel Mode of inheritance for gene: ERBB2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.22 ERBB2 Chirag Patel Marked gene: ERBB2 as ready
Arthrogryposis v1.22 ERBB2 Chirag Patel Gene: erbb2 has been classified as Red List (Low Evidence).
Arthrogryposis v1.22 ERBB2 Chirag Patel Classified gene: ERBB2 as Red List (low evidence)
Arthrogryposis v1.22 ERBB2 Chirag Patel Gene: erbb2 has been classified as Red List (Low 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 Chirag Patel Copied gene ERBB2 from panel Mendeliome
Arthrogryposis v1.21 ERBB2 Chirag Patel gene: ERBB2 was added
gene: ERBB2 was added to Arthrogryposis. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERBB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERBB2 were set to 40329538; 33720042
Phenotypes for gene: ERBB2 were set to Congenital heart disease - left ventricular outflow tract obstruction defects; MONDO:0005453; Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623)