| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v0.430 | AIFM1 | Zornitza Stark Marked gene: AIFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.430 | AIFM1 | Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.430 | AIFM1 | Zornitza Stark Classified gene: AIFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.430 | AIFM1 | Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.429 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 33439541; 28842795; 27102849 Phenotypes for gene: AIFM1 were set to spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Review for gene: AIFM1 was set to GREEN Added comment: PMID 28842795 reports 12 affected males from 6 unrelated families with X‑linked AIFM1 variants; PMID 27102849 reports 7 affected males from 2 unrelated families with the recurrent p.Asp237Gly variant; PMID 33439541 adds 2 affected males from 2 families (one novel intronic splice variant, one previously reported synonymous variant). All cases present with short stature, kyphoscoliosis, spondylometaphyseal dysplasia, cerebral hypomyelination, motor delay and progressive neurodegeneration. Functional studies show reduced AIFM1 mRNA/protein and exon‑7 skipping, supporting loss‑of‑function. X‑linked recessive inheritance with carrier mothers (occasionally mosaic) is consistently reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||