DHH

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green DHH in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Other Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 46XY sex reversal 7, 233420
Red DHH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy 46XY sex reversal 7
Red DHH in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH UKGTN
Green DHH in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH UKGTN NHS GMS NHS GMS South West GLH Phenotypes 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766