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| Pituitary hormone deficiency v2.32 | BMP4 |
Eleanor Williams commented on gene: BMP4: PMID: 31120642 - RodrÃguez-Contreras et al 2019 - report a 6 yo patient with combined pituitary hormone deficiency (CPHD ) who was found to have a de novo pathogenic loss-of-function variant (NM_001202.5:c.794G > A, p.(Trp265*)) in BMP4 following NGS using a custom 310 gene panel. His clinical phenotype included macrocephaly, myopia/astigmatism, mild psychomotor retardation, anterior pituitary hypoplasia and ectopic posterior pituitary, clinically diagnosed with growth hormone deficiency, and central hypothyroidism. PMID: 24289245 - Breitfeld et al 2014 - sequenced BMP2, 4 and 7 in 19 subjects with combined pituitary hormone deficiency (CPHD). 1 proband was found to have a p.Arg300Pro variant in BMP4 that is predicted to have functional consequences. PMID: 18252212 - Bakrania et al 2008 - screened 215 individuals with ocular malformation defects for variants in BMP4 and gene deletions by MLPA. They report 1 case with pituitary abormalities along with bilateral anophthalmia, microcephaly, sensorineural deafness, cryptorchidism, partial callosal agenesis, cerebellar abnormalities, and developmental delay . The proband had a deletion of del(14)(q22.2q23.1) which encompasses BMP4 and OTX2. Using in situ hybridization in human embryos, they showed expression of BMP4 in optic vesicle, developing retina and lens, pituitary region, and digits. Also: PMID: 35633847 - Calcaterra et al 2022 - report a child with a novel variant p.Glu93* in exon 3 of BMP4. She was found to have an ectopic posterior pituitary but normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. |
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| Pituitary hormone deficiency v2.4 | OTX2 | Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.71 | OTX2 | Ivone Leong commented on gene: OTX2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | OTX2 | Ivone Leong Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | OTX2 | Ivone Leong Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | OTX2 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | OTX2 | Ivone Leong commented on gene: OTX2: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.4 | OTX2 | Ivone Leong Publications for gene: OTX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Added comment: Comment when marking as ready: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.1 | OTX2 |
Ivone Leong gene: OTX2 was added gene: OTX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125) |
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