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| Pituitary hormone deficiency v2.42 | EIF2S3 | Eleanor Williams Phenotypes for gene: EIF2S3 were changed from hypopituitarism; glucose intolerance; MEHMO syndrome, OMIM:300148 to hypopituitarism, MONDO:0005152; glucose intolerance, MONDO:0001076; MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.41 | EIF2S3 | Eleanor Williams Tag watchlist tag was added to gene: EIF2S3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.41 | EIF2S3 | Eleanor Williams Classified gene: EIF2S3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.41 | EIF2S3 | Eleanor Williams Added comment: Comment on list classification: Promoting to Amber. 2 cases reported with hypopituitarism. In another case growth hormone deficiency is noted so adding the watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.41 | EIF2S3 | Eleanor Williams Gene: eif2s3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.40 | EIF2S3 | Eleanor Williams Phenotypes for gene: EIF2S3 were changed from to hypopituitarism; glucose intolerance; MEHMO syndrome, OMIM:300148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.39 | EIF2S3 | Eleanor Williams Publications for gene: EIF2S3 were set to 30878599; 23063529; 27333055,; 28055140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.38 | EIF2S3 | Eleanor Williams Publications for gene: EIF2S3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.37 | EIF2S3 | Eleanor Williams Added comment: Comment on mode of inheritance: No female cases reported to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.37 | EIF2S3 | Eleanor Williams Mode of inheritance for gene: EIF2S3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.36 | EIF2S3 | Eleanor Williams Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.35 | EIF2S3 |
Eleanor Williams edited their review of gene: EIF2S3: Added comment: Associated with MEHMO syndrome in OMIM #300148 (XLR) PMID: 30878599 - Gregory et al 2019 - X-chromosome exome sequencing identified a missense variant in EIF2S3 (p.Pro432Ser) in 3 related males with normal head circumferences and mild learning difficulties, hypopituitarism (GH and TSH deficiencies), and an unusual form of glucose dysregulation. The authors state this is the first time this combination of phenotypes has been reported in the literature. Several other studies (PMID: 23063529,PMID: 27333055, PMID: 28055140) report the more severe MEHMO syndrome phenotype with severe learning difficulties, all in males. Heterozygous females are unaffected. In PMID: 27333055 (Moortgat et al 2016) the growth hormone deficiency is noted in 2 related males, but for 1 it is reported that the pituitary gland and stalk were normal (not mentioned for the other). In PMID: 28055140 (Skopkova et al 2017) panhypopituitarism and partial hypopituitarism are noted as a clinical feature in two unrelated Slovakian patients (both with the same p.Ile465Serfs*4 variant).; Changed phenotypes to: HYPOPITUITARISM, GLUCOSE INTOLERANCE, FEATURES OF MEHMO SYNDROME, MEHMO syndrome, OMIM:300148; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Pituitary hormone deficiency v2.15 | EIF2S3 | Eleanor Williams reviewed gene: EIF2S3: Rating: ; Mode of pathogenicity: ; Publications: 30878599; Phenotypes: HYPOPITUITARISM, GLUCOSE INTOLERANCE, FEATURES OF MEHMO SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.14 | EIF2S3 |
Eleanor Williams gene: EIF2S3 was added gene: EIF2S3 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: EIF2S3 was set to |
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