Description
This panel is used for clinical indication 'R159 Pituitary hormone deficiency', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/)  under 'R159 Pituitary hormone deficiency'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

9 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Suzanne Page (Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

64 Entities

56 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
64 Entitiess
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous syndrome, OMIM:115150
  • cardiofaciocutaneous syndrome, MONDO:0015280
Tags
Green Green List (high evidence)
BTK
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
Tags
Green Green List (high evidence)
CHD7
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • CHARGE syndrome (214800)
  • Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
Tags
Green Green List (high evidence)
FGF8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Tags
Green Green List (high evidence)
FGFR1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
  • Hartsfield syndrome, OMIM:615465
  • Pfeiffer syndrome, OMIM:101600
  • Jackson-Weiss syndrome, OMIM:123150
Tags
Green Green List (high evidence)
FOXA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • No OMIM number
  • Congenital hypopituitarism
  • Congenital hyperinsulinism
Tags
  • gene-checked
Green Green List (high evidence)
GH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth hormone deficiency, isolated, type II (173100)
  • Growth hormone deficiency, isolated, type IA (262400)
  • Growth hormone deficiency, isolated, type IB (612781)
Tags
Green Green List (high evidence)
GHR
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Laron dwarfism, OMIM:262500
  • Growth hormone insensitivity, partial, OMIM:604271
  • Increased responsiveness to growth hormone, OMIM:604271
Tags
Green Green List (high evidence)
GHRHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth hormone deficiency, isolated, type IV (618157)
Tags
Green Green List (high evidence)
GHSR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth hormone deficiency, isolated partial (615925)
Tags
Green Green List (high evidence)
GLI2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Culler-Jones syndrome (615849)
  • Holoprosencephaly 9 (610829)
Tags
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Greig cephalopolysyndactyly syndrome (175700)
  • Pallister-Hall syndrome (146510)
Tags
Green Green List (high evidence)
GNRHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia (146110)
Tags
Green Green List (high evidence)
HESX1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Growth hormone deficiency with pituitary anomalies, OMIM:182230
  • Pituitary hormone deficiency, combined, 5, OMIM:182230
  • Septooptic dysplasia, OMIM:182230
Tags
Green Green List (high evidence)
HID1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
  • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Tags
Green Green List (high evidence)
IGSF1
3 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center
Phenotypes
  • Hypothyroidism, central, and testicular enlargement, OMIM:300888
Tags
Green Green List (high evidence)
LHX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pituitary hormone deficiency, combined, 3 (221750)
Tags
Green Green List (high evidence)
LHX4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pituitary hormone deficiency, combined, 4 (262700)
Tags
Green Green List (high evidence)
OTX2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pituitary hormone deficiency, combined, 6 (613986)
  • Microphthalmia, syndromic 5 (610125)
Tags
Green Green List (high evidence)
PITX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Axenfeld-Rieger syndrome, type 1 (180500)
  • Anterior segment dysgenesis 4 (137600)
Tags
Green Green List (high evidence)
PNPLA6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Boucher-Neuhauser syndrome (215470)
  • Oliver-McFarlane syndrome (275400)
  • Spastic paraplegia 39, autosomal recessive (612020)
Tags
Green Green List (high evidence)
POU1F1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Tags
Green Green List (high evidence)
PROKR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Tags
Green Green List (high evidence)
PROP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pituitary hormone deficiency, combined, 2 (262600)
Tags
Green Green List (high evidence)
RNPC3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pituitary hormone deficiency, combined or isolated 7, OMIM:618160
  • isolated growth hormone deficiency, type 5, MONDO:0032569
Tags
  • gene-checked
Green Green List (high evidence)
SOX2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 3, OMIM:206900
  • anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799
Tags
Green Green List (high evidence)
SOX3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
  • Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
  • Panhypopituitarism, X-linked, OMIM:312000
  • Panhypopituitarism, X-linked, MONDO:0010712
Tags
Green Green List (high evidence)
TBC1D32
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Syndromic Hypopituitarism
  • orofaciodigital syndrome
Tags
  • gene-checked
Green Green List (high evidence)
TBX19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenocorticotropic hormone deficiency (201400)
Tags
Amber Amber List (moderate evidence)
BMP4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 6, OMIM:607932
Tags
Amber Amber List (moderate evidence)
CDON
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Holoprosencephaly 11 (614226)
Tags
  • watchlist
Amber Amber List (moderate evidence)
DCHS2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • pituitary stalk interruption syndrome, MONDO:0019828
Tags
  • watchlist
Amber Amber List (moderate evidence)
EIF2S3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • hypopituitarism, MONDO:0005152
  • glucose intolerance, MONDO:0001076
  • MEHMO syndrome, OMIM:300148
  • MEHMO syndrome, MONDO:0010258
Tags
  • watchlist
Amber Amber List (moderate evidence)
FAT2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 45, OMIM:617769
  • spinocerebellar ataxia 45, MONDO:0033480
Tags
  • watchlist
Amber Amber List (moderate evidence)
KCNQ1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome 1 (192500)
  • Pituitary hormone deficiency
Tags
  • Q1_24_expert_review
  • Q1_24_NHS_review
  • Q1_24_promote_green
  • watchlist
Amber Amber List (moderate evidence)
PCSK1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Obesity with impaired prohormone processing, OMIM:600955
  • obesity due to prohormone convertase I deficiency, MONDO:0010961
  • {Obesity, susceptibility to, BMIQ12},OMIM:612362
Tags
Amber Amber List (moderate evidence)
RAX
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
Tags
  • watchlist
Amber Amber List (moderate evidence)
ROBO1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • pituitary stalk interruption syndrome, MONDO:0019828
Tags
Amber Amber List (moderate evidence)
SHH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Microphthalmia with coloboma 5 (611638)
  • Holoprosencephaly 3 (142945)
Tags
  • watchlist
Amber Amber List (moderate evidence)
TCF7L1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • No OMIM number
  • pituitary hormone deficiency
Tags
Amber Amber List (moderate evidence)
TGIF1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Holoprosencephaly 4,OMIM:142946
  • holoprosencephaly 4, MONDO:0007734
Tags
Red Red List (low evidence)
ARNT2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center
Phenotypes
  • ?Webb-Dattani syndrome, OMIM:615926
Tags
Red Red List (low evidence)
BMP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Tags
Red Red List (low evidence)
FOXH1
0 reviews
Unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
  • No OMIM number
Tags
Red Red List (low evidence)
GHRH
1 review
Unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • ?Isolated growth hormone deficiency due to defect in GHRF
  • No OMIM number
Tags
Red Red List (low evidence)
GPR161
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • pituitary stalk interruption syndrome, MONDO:0019828
Tags
Red Red List (low evidence)
HHIP
0 reviews
Unknown
Sources
  • Literature
Phenotypes
  • No OMIM number
Tags
Red Red List (low evidence)
HNRNPU
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Epileptic encephalopathy, early infantile, 54 (617391)
Tags
Red Red List (low evidence)
IFT172
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
Phenotypes
  • retinopathy, metaphyseal dysplasia
Tags
Red Red List (low evidence)
L1CAM
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert review
Phenotypes
  • CRASH syndrome, OMIM:303350
  • MASA syndrome, OMIM:303350
Tags
Red Red List (low evidence)
MAGEL2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Schaaf-Yang syndrome, OMIM:615547
  • Schaaf-Yang syndrome, MONDO:0014243
Tags
Red Red List (low evidence)
NKX2-1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Red
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
  • brain-lung-thyroid syndrome, MONDO:0012593
Tags
Red Red List (low evidence)
NODAL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly
  • Heterotaxy, visceral, 5 (270100)
Tags
Red Red List (low evidence)
PAX6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Aniridia (106210)
Tags
Red Red List (low evidence)
POLR3A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Tags
Red Red List (low evidence)
PSTPIP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Tags
Red Red List (low evidence)
PTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Holoprosencephaly 7, OMIM:610828
Tags
Red Red List (low evidence)
RBM28
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center
Phenotypes
  • ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
  • ANE syndrome
Tags
Red Red List (low evidence)
SIX3
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly 2, OMIM:157170
  • alobar holoprosencephaly, MONDO:0019757
Tags
Red Red List (low evidence)
SLC15A4
0 reviews
Unknown
Sources
  • Literature
Phenotypes
  • No OMIM number
Tags
Red Red List (low evidence)
SLC20A1
0 reviews
Unknown
Sources
  • Literature
Phenotypes
  • No OMIM number
Tags
  • gene-checked
Red Red List (low evidence)
WDR11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858
  • hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926
Tags
Red Red List (low evidence)
ZIC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly 5 (609637)
Tags
Red Red List (low evidence)
ZSWIM6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Acromelic frontonasal dysostosis (603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
Tags

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