| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adrenal insufficiency v1.0 | POR | Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.68 | C14orf80 |
Chirag Patel gene: C14orf80 was added gene: C14orf80 was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf80 were set to 39979680; 38252227; 30842647 Phenotypes for gene: C14orf80 were set to Syndromic disease, MONDO:0002254 Review for gene: C14orf80 was set to RED Added comment: Adrenal insufficiency only reported in 2 male siblings from 1 non-consanguineous family with biallelic loss‑of‑function TEDC1 variants (c.104-5C>G and p.Ala263LeufsTer29). They also had prenatal‑onset severe growth impairment, primary microcephaly, primary hypogonadism, congenital glaucoma, craniosynostosis, tracheal stenosis and developmental delay. Functional studies demonstrate loss of TEDC1 protein, disrupted TEDC2 binding, cell‑cycle defects in patient lymphoblastoid cells, and recapitulation of growth and cranial phenotypes in a tedc1‑/‑ zebrafish model. Total of 5 individuals from 3 families reported with biallelic loss‑of‑function TEDC1 variants, presenting with developmental delay and microcephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.66 | CPOX |
Chirag Patel gene: CPOX was added gene: CPOX was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPOX were set to 40857591; 40481674; 40296768 Phenotypes for gene: CPOX were set to harderoporphyria, MONDO:0030048 Review for gene: CPOX was set to GREEN Added comment: ClinGen DEFINITIVE association (Jan 2023). Childhood‑onset primary adrenal insufficiency reported in 5 individuals from 4 unrelated families with biallelic loss‑of‑function CPOX variants, with 3 individuals also having 46,XY DSD (PMID 40296768 and 40481674). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.65 | GFER |
Chirag Patel gene: GFER was added gene: GFER was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 26018198 Phenotypes for gene: GFER were set to Mitochondrial disease, MONDO:0044970 Review for gene: GFER was set to RED Added comment: ClinGen DEFINITIVE association with disease (Sep'23). Only 1 patient aged 19 years reported with infancy onset adrenal insufficiency. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.63 | HSD17B4 |
Chirag Patel gene: HSD17B4 was added gene: HSD17B4 was added to Adrenal insufficiency. Sources: Literature,ClinGen Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 40416444; 32904102; 32528852 Phenotypes for gene: HSD17B4 were set to d-bifunctional protein deficiency, MONDO:0009855 Review for gene: HSD17B4 was set to GREEN Added comment: ClinGen DEFINITIVE association with disease (Apr 2020). Adrenal insufficiency reported in 5 individuals from 3 unrelated families with D‑bifunctional protein deficiency due to biallelic loss‑of‑function HSD17B4 variants. Sources: Literature, ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.59 | IARS2 |
Chirag Patel gene: IARS2 was added gene: IARS2 was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 30419932 Phenotypes for gene: IARS2 were set to cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, MONDO:0014455 Review for gene: IARS2 was set to AMBER Added comment: Established gene-disease association with cataract‑growth hormone deficiency‑sensory neuropathy‑sensorineural hearing loss‑skeletal dysplasia (CAGSSS) syndrome. PMID 30419932 reports 2 unrelated individuals with the same homozygous missense variant in IARS2 gene (p.Pro909Ser) presenting with CAGSSS syndrome and central adrenal insufficiency. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.56 | POR | Chirag Patel Marked gene: POR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.56 | POR | Chirag Patel Gene: por has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.54 | POLE |
Chirag Patel gene: POLE was added gene: POLE was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 30503519 Phenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684 Review for gene: POLE was set to GREEN Added comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. 15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.11 | Chirag Patel Copied gene POR from panel Congenital adrenal hyperplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.11 | POR |
Chirag Patel gene: POR was added gene: POR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POR were set to 27068427 Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||