Monogenic diabetes
Gene: SLC29A3
Comment on phenotypes: Previous phenotypes:
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782Created: 16 Mar 2021, 2:27 p.m. | Last Modified: 16 Mar 2021, 2:27 p.m.
Panel Version: 2.36
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: SLC29A3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes).Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:31 p.m.
Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782
Ivone Leong: Initial gene list and info col
Source NHS GMS was added to SLC29A3.
Added phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome for gene: SLC29A3
gene: SLC29A3 was added gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 19336477 Phenotypes for gene: SLC29A3 were set to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome