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| Frontonasal dysplasia v2.2 | PIGB | Zornitza Stark Marked gene: PIGB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v2.2 | PIGB | Zornitza Stark Gene: pigb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v2.2 | PIGB | Zornitza Stark Publications for gene: PIGB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v2.1 | PIGB | Zornitza Stark edited their review of gene: PIGB: Changed publications: 34400385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v2.1 | PIGB |
Zornitza Stark gene: PIGB was added gene: PIGB was added to Frontonasal dysplasia. Sources: Literature founder tags were added to gene: PIGB. Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGB were set to Acrofrontofacionasal dysplasia 1, MIM# 201180 Review for gene: PIGB was set to RED Added comment: 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. Likely founder variant. Sources: Literature |
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