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| Congenital Disorders of Glycosylation v2.2 | PIGB | Zornitza Stark Tag founder tag was added to gene: PIGB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v2.2 | PIGB | Zornitza Stark Phenotypes for gene: PIGB were changed from Developmental and epileptic encephalopathy 80 618580 to Developmental and epileptic encephalopathy 80, MIM# 618580; Acrofrontofacionasal dysplasia 1, MIM# 201180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v2.1 | PIGB | Zornitza Stark Publications for gene: PIGB were set to 31256876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v2.0 | PIGB |
Zornitza Stark edited their review of gene: PIGB: Added comment: Association with AFFND1, PMID 34400385: two individuals from two Brazilian families reported with the same homozygous intronic variant c.795-19T>G and a distinctive phenotype comprising severe DD/ID, and marked dysmorphic features, including hypertelorism, broad nose with notched nasal tip, cleft lip/palate, and wide and protruding central upper incisors. Vision is impaired due to coloboma and other ocular anomalies, and hearing loss in later life has been reported. Skeletal abnormalities include mesomelic shortening of limbs, distal digital hypoplasia, fibular hypoplasia, and clubfeet. RED for this association as single, likely founder variant in the Brazilian population.; Changed publications: 31256876, 34400385; Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580, Acrofrontofacionasal dysplasia 1, MIM# 201180 |
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| Congenital Disorders of Glycosylation v2.0 | PIGB | Gene migrated from ENSG00000069943 to ENSG00000069943 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.216 | PIGB | Zornitza Stark Marked gene: PIGB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.216 | PIGB | Zornitza Stark Gene: pigb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.216 | PIGB | Zornitza Stark Classified gene: PIGB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.216 | PIGB | Zornitza Stark Gene: pigb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.215 | PIGB |
Zornitza Stark gene: PIGB was added gene: PIGB was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 618580 Review for gene: PIGB was set to GREEN Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects. Sources: Expert list |
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