Pituitary hormone deficiency
Gene: ROBO1EnsemblGeneIds (GRCh38): ENSG00000169855
EnsemblGeneIds (GRCh37): ENSG00000169855
OMIM: 602430, Gene2Phenotype
ROBO1 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Natasha Brown (Victorian Clinical Genetics Services)
PMID: 30692597 novel hmz splice, single case; severe phenotype combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, dysmorphism; parents reported to be unaffected.
PMID: 30530901 Two affected from one family with 343.7 kb deletion of 3p12.3 encompassing ROBO1
PMID: 33270637 Larger cohort study found four individiuals (2x LOF; 2x missense) all het variants however those with missense variants also had other variants in different genes, evidence for pathogenicity of missense variants less clear.
PMID: 28402530 In five unexplained cases of pit stalk interruption, found: p.Ala977Glnfs*40 in two affected sibs; p.Tyr1114Ter in a sporadic case, and p.Cys240Ser, affected child and paternal aunt. All heterozygous.
Sources: LiteratureCreated: 26 Sep 2021, 10:49 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
- OMIM
- 602430
- Clinvar variants
- Variants in ROBO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: robo1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: robo1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natasha Brown (Victorian Clinical Genetics Services)gene: ROBO1 was added gene: ROBO1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530 Phenotypes for gene: ROBO1 were set to pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency Review for gene: ROBO1 was set to GREEN